Claims 26
From the paper Prevalence of IMPG1 and IMPG2 Mutations Leading to Retinitis Pigmentosa or Vitelliform Macular Dystrophy in a Cohort of Patients with Inherited Retinal Dystrophies · claims file · checked 2026-10-21: ready
- cohort-prevalence
Of 480 IRD patients in the cohort, 7 (1.45%) carried IMPG1 or IMPG2 mutations; 2 (0.41%) were diagnosed with RP and 5 (1.04%) with VMD.
In our study, 7 out of 480 patients with IRDs (1.45%) were found to have mutations in IMPG genes. Of these, two patients (0.41%) were diagnosed with RP, while five patients (1.04%) exhibited characteristics of VMD.
Results, opening paragraph (before 3.1)How it will be judged
Counts are of patients and must match exactly (tolerance 0, as a count of people has no measurement error); percentages take the default 10%. The carriers and their diagnoses are counted from the dataset; the denominator of 480 is the cohort of Methods 2.1 (IRDs Clinic, March 2015 to June 2024). If the dataset holds only the seven carriers, the numerators are tested and the denominator is recorded as taken from the paper. The paper prints 1.45% and 0.41% where 7/480 and 2/480 give 1.458% and 0.417%; both truncation and rounding fall within tolerance, so this does not change the outcome. The Discussion's "1 in 68" is 480/7 and is tested with the same counts.
- all-caucasian
All seven patients with IMPG mutations were Caucasian.
All seven patients with IMPG mutations were Caucasian.
Results, opening paragraph (before 3.1)How it will be judged
Reproduced when the dataset records race or ancestry as Caucasian (white, European) for all seven patients; not reproduced when any is recorded otherwise; blocked when the dataset does not record it.
- table1-genotypes
The seven patients carry the variants of Table 1 (F32 IMPG1 c.2218C>T p.Leu740Phe heterozygous; M83 IMPG2 c.3056G>A p.Cys1019Tyr and c.391C>T p.Arg131Cys, compound heterozygous; M75 IMPG1 c.1269C>A p.Asp423Glu heterozygous; M82 IMPG2 c.745C>T p.Leu249Phe heterozygous; M73 and F57 IMPG2 c.2890C>T p.Arg964* heterozygous; M34 IMPG2 c.3262C>T p.Arg1088* heterozygous).
All the patients are represented in Table 1.
Table 1; Results, opening paragraph (before 3.1)How it will be judged
For each of the seven patients, the gene, cDNA change, protein change and zygosity in the dataset are compared with Table 1. Table 1 writes the gene of F32 as "IMGP1"; the text (3.1, Figure 1) makes it IMPG1, and IMPG1 is the reading used. Reproduced when all seven patients match in every field; partially reproduced when some but not all do; not reproduced when none does. Reference transcripts are not named in the paper, so a cDNA position that differs only by a transcript offset, with the same protein change, is reported and counted as a match.
- table1-diagnosis-sex-age
F32 (female, 32 years) has sectoral RP and M83 (male, 83) RP; M75 (male, 75), M82 (male, 82), M73 (male, 73), F57 (female, 57) and M34 (male, 34) have VMD.
How it will be judged
Diagnosis and sex must match exactly for each patient. Age is the number in the identifier and the "N-year-old" of section 3; the paper does not say at which date it was taken. Readings allowed by the text are (a) age at the most recent visit, the visit whose BCVA is reported for M83 and M75, and (b) age at data collection for the study (2024). Age takes the default tolerance of 10%. Reproduced when diagnoses and sexes all match and ages match under one reading; partially reproduced when diagnoses match but sex or age does not for some patient.
- inheritance-by-disease
The RP mutations are all missense, dominant in IMPG1 and recessive (compound heterozygous) in IMPG2; all VMD mutations are dominant (heterozygous), either missense or nonsense.
Our findings show all missense mutations for the RP phenotype with dominant inheritance in IMPG1 and recessive in IMPG2 ... all patients expressing VMD harvest dominant mutations, which can be either mis- or non-sense
Results, opening paragraph (before 3.1); Figure 1; Table 1How it will be judged
Read from the genotypes and diagnoses of the two claims it depends on. Dominant and recessive are the paper's reading of zygosity (one heterozygous variant is dominant, two variants on different alleles recessive); family segregation is not reported. Reproduced when the dataset's genotypes and diagnoses give the pattern stated.
- table1-bcva
BCVA (OD and OS) is F32 20/25 and 20/25; M83 20/70 and 20/30; M75 20/40 and 20/40; M82 20/30 and 20/25; M73 20/100 and 20/50; F57 20/20 and 20/20; M34 20/20 and 20/20.
How it will be judged
Snellen fractions must match exactly, eye by eye (no tolerance, as Snellen acuity is read in discrete lines). The paper says for M83 and M75 that the value is from the most recent visit and does not say so for the others. Readings are (a) the most recent visit recorded and (b) any visit recorded. Reproduced when all 14 eyes match under one reading; partially reproduced when some do; not reproduced when none does.
- f32-sector-rp-phenotype
Patient F32 has sector RP of the inferior retina; FF shows inferior sectoral bone spicule pigmentation, FAF reduced autofluorescence, SD-OCT a normal foveal architecture without significant thinning, and GVF a superior depression in both eyes.
Clinically, Patient F32 presented with sector RP primarily affecting the inferior retina ( Figure 2 A,B). ... The FF examination revealed dystrophy of the inferior retina, characterized by sectorial bone spicule pigmentation (yellow arrows). The FAF imaging showed reduced autofluorescence corresponding to a superior visual field defect in both eyes
Results, 3.1 RP Patients, paragraph on Patient F32; Figure 2A,BHow it will be judged
The paper grades its images by clinical inspection and gives no quantitative measure; the arrows in Figure 2A,B mark the features. Each feature (inferior bone spicule pigmentation on FF, reduced FAF, foveal architecture without significant thinning on SD-OCT, superior depression on GVF) is judged by viewing the patient's image of that modality and eye against the place the Figure 2 legend marks. Reproduced when the dataset holds the four modalities for both eyes and each feature is visible; partially reproduced when some are; blocked for a modality the dataset lacks. This visual reading is the only method the paper allows and is recorded as a deviation.
- m83-rp-phenotype
Patient M83 has bilateral outer retinal atrophy sparing the central fovea with a bull's eye pattern, 360 degree bone spicules, pale discs and attenuated vessels on FF; reduced FAF; an inferior residual crescent and small central field on GVF; and diffuse ellipsoid zone and outer nuclear layer loss on SD-OCT, sparing part of the central fovea in the left eye.
The FF revealed bilateral outer retinal atrophy sparing the central fovea, with a bull's eye pattern surrounding the fovea ( Figure 2 C,D). ... The GVF demonstrated an inferior residual crescent in both eyes and a small central visual field. The SD-OCT shows diffuse loss of the ellipsoid zone and outer nuclear layer, sparing part of the central fovea in the left eye.
Results, 3.1 RP Patients, paragraph on Patient M83; Figure 2C,DHow it will be judged
As for f32-sector-rp-phenotype, by visual inspection of each modality and eye against the features the text and the Figure 2C,D legend name (atrophy, bull's eye pattern, bone spicules, reduced FAF, GVF crescent and central field, ellipsoid loss). Reproduced when every named feature is visible; partially reproduced when some are; blocked for a modality the dataset lacks.
- m75-vmd-phenotype
Patient M75 has bilateral subretinal vitelliform material in the macula on SD-OCT, macular hypopigmentation on FF, FAF hypo-autofluorescence in the right macula and hyper-autofluorescence in the left, early blockage and late window defects on FA, and a superior macular nevus.
Subretinal vitelliform material was detected bilaterally in the macula by SD-OCT ( Figure 3 A,B). The FF shows hypopigmentation in the macula of both eyes. Hypo-autofluorescence, suggesting retinal atrophy, was observed in the right macula, while hyper-autofluorescence, indicative of vitelliform deposits, was noted in the left macula using FAF.
Results, 3.2 VMD Patients, paragraph on Patient M75; Figure 3A,BHow it will be judged
By visual inspection of each modality and eye, as for f32-sector-rp-phenotype. The text and the legend disagree on the left eye's FAF; the legend says "FAF shows hypo-autofluorescence in the right and left macula". Both readings are named; the FAF feature holds when the left macula is hyper-autofluorescent (text) or hypo-autofluorescent (legend), and the notebook says which. The nevus is looked for on FF and, where the dataset holds it, the infrared image, where the text says it was seen. Reproduced when the SD-OCT, FF, FAF and FA features and the nevus are visible; partially reproduced when some are.
- m82-vmd-phenotype
Patient M82 has late-stage VMD with foveal atrophy; SD-OCT shows an attenuated ellipsoid and retinal thinning in the right eye and a vitelliform lesion with small ellipsoid disruption in the left; FF shows foveal hypopigmentation and FA window defects in both eyes.
SD-OCT of the right eye showed attenuated ellipsoid and retinal thinning, while the left eye displayed a vitelliform lesion with a small ellipsoid zone disruption. The FF shows hypopigmentation of the fovea in both eyes. The FFA demonstrates a bilateral window defect.
Results, 3.2 VMD Patients, paragraph on Patient M82; Figure 3C,DHow it will be judged
By visual inspection of each modality and eye, as for f32-sector-rp-phenotype, against the features of the text and the Figure 3C,D legend. Reproduced when every named feature is visible; partially reproduced when some are.
- m73-vmd-phenotype
Patient M73 has bilateral macular subretinal hyporeflective spaces and ellipsoid disruption on SD-OCT, foveal hypopigmentation, dot-blot hemorrhages and peripheral cobblestone degeneration on FF, and bilateral hyper-autofluorescence on FAF.
Patient M73, a 73-year-old male, presented with bilaterally macular subretinal hyporeflective spaces on SD-OCT, suggesting the reabsorption of vitelliform material ( Figure 3 E,F). Additional findings included ellipsoid disruption.
Results, 3.2 VMD Patients, paragraph on Patient M73; Figure 3E,FHow it will be judged
By visual inspection of each modality and eye, as for f32-sector-rp-phenotype. The text does not say which eye has the ellipsoid disruption; the Figure 3E,F legend says the right eye, and either eye satisfies the feature. Reproduced when every named feature is visible; partially reproduced when some are.
- f57-vmd-phenotype
Patient F57 has subretinal vitelliform lesions in the macula of both eyes on SD-OCT, foveal hypopigmentation on FF, and bilateral hypo-autofluorescence on FAF, more pronounced in the left eye.
exhibiting subretinal vitelliform lesions in the macula of both eyes on SD-OCT ( Figure 3 G,H). ... FAF showed hypo-autofluorescence bilaterally, which was more pronounced in the left eye.
Results, 3.2 VMD Patients, paragraph on Patient F57; Figure 3G,HHow it will be judged
By visual inspection of each modality and eye, as for f32-sector-rp-phenotype. "More pronounced" is judged by comparing the extent of the hypo-autofluorescent area in the two eyes' FAF images; the paper gives no measure. Reproduced when every named feature is visible; partially reproduced when some are.
- m34-vmd-phenotype
Patient M34 has bilateral subretinal vitelliform lesions on SD-OCT, glaucomatous optic nerves and mild macular hypopigmentation on FF, and faint hyper-autofluorescence on FAF.
The SD-OCT shows subretinal vitelliform lesions on both eyes. The FF is primarily indicative of glaucomatous optic nerves and mild macular hypopigmentation. FAF showed faint hyper-autofluorescence.
Results, 3.2 VMD Patients, paragraph on Patient M34; Figure 3I,JHow it will be judged
By visual inspection of each modality and eye, as for f32-sector-rp-phenotype. The text and the legend disagree on FAF; the Figure 3I,J legend says "The FF and FAF reveal bilateral hypopigmentation and hypo-autofluorescence". Both readings are named; the FAF feature holds under either, and the notebook says which. Reproduced when every named feature is visible; partially reproduced when some are.
- rp-superior-field-no-cme
Both RP patients have superior visual field limitation (inferior retina affected first), and neither has cystoid maculopathy.
Both RP patients experienced visual field limitations in the superior visual field. ... Cystoid maculopathy did not occur in either young or old patients.
Discussion, paragraph 3 (on Patient M83 and the RP patients)How it will be judged
The superior limitation is read from the GVF of F32 and M83 by visual inspection; the absence of cystoid maculopathy from their SD-OCT, where cystoid spaces are looked for in the macula of each eye (Methods 2.1 names cystoid macular edema as an OCT indicator for RP). The paper gives no test. Reproduced when both GVFs show the superior limitation and no macular SD-OCT shows cystoid spaces; not reproduced when either fails.
- vmd-acuity-preserved
In most VMD patients visual acuity was not significantly reduced; the only exception is M73 (20/100 OD, 20/50 OS).
Interestingly, in most VMD patients, visual acuity was not significantly reduced. The only exception is patient M73, who has a BCVA of 20/100 OD and 20/50 OS.
Discussion, paragraph 5How it will be judged
The paper gives no threshold for a significant reduction and does not say whether it is judged on the worse or the better eye. Its text counts M75 (20/40 in both eyes) as not reduced and M73 (20/100 OD, 20/50 OS) as reduced, so the readings it allows are a threshold of worse than 20/40 applied to the worse eye, or to the better eye, and, on the worse eye, any threshold up to 20/100 (worse than 20/40, 20/50 or 20/70). Each reading is run on the five VMD patients. Reproduced when under every reading M73 is the only one reduced; not reproduced when under every reading he is not; blocked as methods_underspecified when the readings differ.
- m73-f57-similar-lesions
The two unrelated carriers of IMPG2 p.Arg964* (M73 and F57) have similar vitelliform macular lesions, but the older (M73) has peripheral cobblestone lesions and macular lesions with increased autofluorescence.
Both patients have similar vitelliform macular lesions. However, the oldest patient (M73) presents with peripheral cobblestone lesions, and the macular lesions have increased autofluorescence.
Discussion, paragraph 6How it will be judged
The paper gives no measure of similarity. Judged by visual inspection of the two patients' SD-OCT and FAF images; reproduced when both show macular vitelliform lesions on SD-OCT, M73's FAF is hyper-autofluorescent where F57's is hypo-autofluorescent, and M73's FF shows peripheral cobblestone degeneration that F57's does not.
- m73-eog-normal
Patient M73, who also carries a BEST1 variant, had a normal EOG, which the authors read as against Best disease.
However, the patient's EOG results were normal, a finding inconsistent with Best disease but more indicative of IMPG2-associated retinal dystrophy.
Discussion, paragraph 5 (on Patient M73)How it will be judged
The paper reports no EOG values, no Arden ratio and no normal range, and its Methods do not describe the EOG. Reproduced when the dataset holds M73's EOG and it is reported as normal there, or when its light-peak to dark-trough (Arden) ratio is in the normal range the recording gives; blocked when the dataset holds no EOG. The normal range is not fixed by the paper and is recorded as open.
- other-gene-variants
Besides their IMPG variants, F32 carries a JAG1 variant, M73 a BEST1 variant, and M83 heterozygous variants of uncertain significance in ALMS1, CEP164, COL11A1, CPLANE1, EYS, KIF7, NPHP4 and PHYH.
It is also important to note that this patient had two diseased gene variants ... IMPG1 and JAG1 .
Discussion, paragraphs 2, 3 and 5How it will be judged
Reproduced when the dataset's genetic reports list each of the named genes for the named patient; partially reproduced when some are listed; blocked when the dataset holds no genetic report beyond the IMPG variants. The quote states the JAG1 variant of F32; the BEST1 variant of M73 and the M83 gene list are stated in Discussion paragraphs 5 and 3.
- variant-domains
The variants lie in or near named protein domains. In IMPG1, p.Leu740Phe is near (3.1) or in (3.5, Discussion) the EGF-like domain next to SEA2, and p.Asp423Glu is between SEA1 and SEA2. In IMPG2, p.Arg131Cys is near SEA-1, p.Leu249Phe in SEA1, p.Arg964* in SEA2, p.Cys1019Tyr in the EGF-1-like domain and p.Arg1088* in the EGF-like 2 domain.
He is heterozygous for the p.Cys1019Tyr mutation in one allele, which affects the EGF-1-like domain, and the p.Arg131Cys mutation in the other allele, which is located near the non-proteolytic SEA-1 domain.
Figure 1; Results, 3.1 and 3.2, the paragraph on each patient; Results, 3.5How it will be judged
Uses outside domain annotations, not the dataset. The paper names no source for the domain boundaries of Figure 1. Readings are the UniProt feature annotations of the canonical entries (IMPG1 Q17R60, IMPG2 Q9BZV3) and the InterPro (Pfam, SMART) domain annotations of the same sequences. "Near" is not defined by the paper and is recorded as open; the distance in residues to the named domain is reported, and a "near" placement matches when the residue lies in no other named domain and the named domain is the closest. For p.Leu740Phe the paper says both "near" and "in"; either matches. Reproduced when every variant is placed as stated under one reading; partially reproduced when some are.
- table2-pathogenicity
In silico tools predict all IMPG2 variants and the novel IMPG1 p.Asp423Glu to be pathogenic, and IMPG1 p.Leu740Phe to be likely benign, with the scores of Table 2.
In IMPG1, the novel variant p.Asp423Glu is predicted to be pathogenic, while the known variant p.Leu740Phe is considered likely benign.
Results, 3.3 Pathogenicity Prediction; Table 2How it will be judged
Uses outside tools, not the dataset. Scores are recomputed with the tools of Methods 2.2 (SIFT, PolyPhen-2, MutationTaster, CADD, FATHMM) for the variants of Table 1. The paper names no tool version, genome build or reference transcript; PolyPhen-2, CADD, MutationTaster and FATHMM were accessed on 10 November 2024, SIFT with no date. Readings for the build are GRCh37 and GRCh38, and for the transcript the canonical (MANE Select) one of each gene; CADD version is the one current in November 2024 (v1.7) or the one before (v1.6); for PolyPhen-2 the HumDiv and HumVar models. Scores take the default 10%; SIFT scores of 0 must be 0 (below 0.05, the damaging range). The flattened Table 2 rows each hold seven entries, with "-" for a missing score, so the FATHMM and MutationTaster columns are read by column order. The paper does not say which MutationTaster output its "score" is, nor which FATHMM model gives the coding scores; the attempt reports the outputs each tool gives and says which, if any, matches. The paper gives no rule for turning scores into the Prediction column; 3.3 says the IMPG2 nonsense calls rest on the premature stop codon and the IMPG2 missense calls on SIFT, PolyPhen and MutationTaster, and the attempt reports each tool's own classification for every variant. Reproduced when, under one reading, the scores are within tolerance and the Prediction column (pathogenic for all but p.Leu740Phe) is matched; partially reproduced when the predictions match but some scores do not.
- asp423glu-novel
IMPG1 p.Asp423Glu, found in M75, is a novel variant with no ClinVar entry, and its association with VMD is reported here for the first time.
Notably, patient M75 harbored a novel missense mutation, p.Asp423Glu, in IMPG1, marking its first reported association with VMD.
Table 2 (Existing Variant ID column); Discussion, paragraph 4How it will be judged
Uses outside data (ClinVar, dbSNP), not the dataset. The paper does not say which release it searched; readings are the releases current at submission (November 2024) and the release current when the attempt is run. Reproduced when no entry for IMPG1 c.1269C>A (p.Asp423Glu) existed in the November 2024 release; a later entry is reported but does not change the outcome.
- table3-destabilizing
All five missense variants are predicted to destabilize the protein by every tool (all ΔΔG negative), and p.Leu249Phe shows the largest destabilizing effect.
Our analysis revealed that all the variants, including p.Leu740Phe, p.Asp423Glu, p.Cys1019Tyr, p.Leu249Phe, and p.Arg131Cys, lead to destabilizing effects on the proteins ... Specifically, the p.Leu249Phe variant exhibited the largest destabilizing effect
Results, 3.4 Prediction of Protein Stability for Point Mutations; Table 3How it will be judged
Uses outside tools, not the dataset. ΔΔG is recomputed with mCSM, SDM, DUET, iMutant and MuPRO (Methods 2.4) for the five missense variants; the 25 values of Table 3 are listed under expected with the default 10% each. mCSM, SDM and DUET need a structure; Methods 2.3 says it is the I-TASSER model with the highest confidence score and over 80% of residues in favored Ramachandran regions, and the model is not deposited, so a rerun of I-TASSER is the only reading and its stochastic output is a source of difference (recorded as a deviation). iMutant and MuPRO run from sequence; the paper names no UniProt entry, and the canonical isoforms (IMPG1 Q17R60, IMPG2 Q9BZV3) are the reading used. The paper names no unit; the tools report kcal/mol. All negative is tested on every value. "Largest" is not defined; readings are (a) the mean ΔΔG over the five tools, (b) the largest magnitude in a majority of tools, (c) the largest in every tool. Table 3 itself satisfies (a) and (b) but not (c) (SDM gives p.Cys1019Tyr and iMutant p.Arg131Cys a larger magnitude). Reproduced when all signs are negative and p.Leu249Phe is largest under (a) or (b).
- impg1-interactions-unchanged
In IMPG1, neither p.Asp423Glu nor p.Leu740Phe changes hydrogen bonds, van der Waals interactions or polar contacts significantly.
In IMPG1, no significant differences were observed in hydrogen bonds, van der Waals interactions or polar contacts between the reference and mutant proteins.
Results, 3.5, paragraph 1; Figure 4A,BHow it will be judged
A claim of absence; the paper names no test or threshold. Uses outside tools (DynaMut, Methods 2.5, on the I-TASSER models of Methods 2.3, not deposited). Reproduced when DynaMut lists the same hydrogen bonds, van der Waals and polar contacts of residue 423 and residue 740 in the reference and mutant models, as Figure 4A,B shows; the contacts gained or lost are reported either way. The model is re-predicted, which is recorded as a deviation.
- impg2-interactions-changed
In IMPG2, p.Cys1019Tyr replaces the polar bond of Cys1019 with Ser1023 and its hydrogen bond with Cys1036 by new bonds with Ser1023, Gln1017 and Cys1025; p.Leu249Phe loses the hydrogen bonds of Leu249 with Val305, Lys252, Leu373 and Val307; p.Arg131Cys loses the hydrogen bond with Tyr134 and a van der Waals interaction.
In the reference protein, Cysteine 1019 interacts with Serine 1023 through polar bonds and with Cysteine 1036 via hydrogen bonds ( Figure 4 C). In the mutant protein, Tyrosine 1019 replaces Cysteine 1019, disrupting these original interactions. Instead, Tyrosine 1019 forms new bonds with Serine 1023, Glutamine 1017, and Cysteine 1025.
Results, 3.5, paragraphs 3 to 5; Figure 4C to 4EHow it will be judged
Uses outside tools (DynaMut on re-predicted I-TASSER models, as for impg1-interactions-unchanged). The contacts of residues 1019, 249 and 131 in reference and mutant are compared with the residues the text names. The text names the van der Waals partner of Arg131 as Gln1236 and then as His135; both readings are named and either matches. Reproduced when the named contacts are lost and, for p.Cys1019Tyr, the named new contacts appear, for all three variants; partially reproduced for one or two.
- table4-impg1-physicochemical
ProtParam gives reference IMPG1 a molecular weight of 89,387 Da, pI 4.79, instability index 53.57 and aliphatic index 75.63; p.Asp423Glu raises the weight (89,419), pI (4.81) and instability index (53.76), and p.Leu740Phe raises the weight (89,421) and lowers the aliphatic index (75.14).
The molecular weight increased from 89.387 KDa in the reference protein to 89.419 KDa in the p.Asp423Glu mutant and 89.421 KDa in the p.Leu740Phe mutant
Results, 3.5, paragraph 2; Table 4How it will be judged
Uses an outside tool (ExPASy ProtParam, Methods 2.6), not the dataset. Tolerances are half the last printed digit, not 10%, because ProtParam is deterministic for a given sequence and the finding is a difference between forms far smaller than 10% of any value. The paper names no sequence; readings are (a) the canonical UniProt IMPG1 sequence (Q17R60) and (b) the same without its signal peptide. Reproduced when every value matches under one reading; partially reproduced when the directions of change stated in the text (weight up for both, pI and instability index up for p.Asp423Glu, aliphatic index down for p.Leu740Phe) hold but some values do not. A single Asp to Glu change adds one CH2 (14 Da, 3 atoms), not the 32 Da and 7 atoms of Table 4, so the p.Asp423Glu weight and atom count may not reproduce under either reading; this is reported. The Discussion (paragraph 2) attributes the higher pI and instability index to p.Leu740Phe, which Table 4 does not show; the claim follows Results 3.5 and Table 4.
- gnomad-frequencies
In gnomAD, IMPG2 p.Cys1019Tyr occurs in about 1 in 93,300 European (non-Finnish) individuals; p.Arg131Cys in about 1 in 4100 European (non-Finnish) and 1 in 3000 Middle Eastern; p.Arg964* in about 1 in 18,700 African/African American and 1 in 59,000 European (non-Finnish); and IMPG1 p.Leu740Phe in about 1 in 332 European (non-Finnish).
The Cys1019Tyr variant is a rare mutation found exclusively in the European (non-Finnish) population, with an estimated frequency of approximately 1 in 93,300 individuals.
Results, 3.1 RP Patients, paragraph on Patient M83; Results, 3.2 VMD Patients, paragraph on M73 and F57; Discussion, paragraph 2How it will be judged
Uses outside data (gnomAD), not the dataset. The paper names no gnomAD version and does not say whether "1 in N" is the inverse of allele frequency or of carrier frequency. A Middle Eastern population is in gnomAD v3.1 and later, so the version readings are v3.1.2 genomes and v4.1 (exomes and genomes joint, and each alone); the frequency readings are 1/allele frequency and 1/(2 x allele frequency). Default 10% tolerance. Reproduced when every value matches under one combination of readings; partially reproduced when some do.
Pipeline
- Paper
- done (1 of 1)
- Claims
- done
- Claims check
- done (ready)
- Attempt
- todo
- Questions
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- none