ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.931G>A (p.Asp311Asn)

dbSNP: rs121912550
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255540 SCV000322376 pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect with impaired protein folding (Wang et al., 2011); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 15851576, 28945494, 21791244, 16671097, 25439607, 11875050, 29847639, 31126147, 32821486)
Labcorp Genetics (formerly Invitae), Labcorp RCV000255540 SCV001206486 pathogenic not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 311 of the IMPDH1 protein (p.Asp311Asn). This variant is present in population databases (rs121912550, gnomAD 0.0009%). This missense change has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 11875050, 28945494). It has also been observed to segregate with disease in related individuals. This variant is also known as Asp226Asn. ClinVar contains an entry for this variant (Variation ID: 14834). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects IMPDH1 function (PMID: 15882147, 21791244). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000255540 SCV001447665 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV000015959 SCV001573294 pathogenic Retinitis pigmentosa 10 2021-04-08 criteria provided, single submitter research The IMPDH1 c.931G>A variant was identified in an individual with retinitis pigmentosa with a presumed dominant inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PS3, PP1-S. Based on this evidence we have classified this variant as Pathogenic.
Dept Of Ophthalmology, Nagoya University RCV003887871 SCV004704785 likely pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
OMIM RCV000015959 SCV000036226 pathogenic Retinitis pigmentosa 10 2006-06-01 no assertion criteria provided literature only

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