ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6937G>T (p.Gly2313Cys) (rs199840367)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432643 SCV000525066 likely pathogenic not provided 2020-10-06 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 27032803, 28981474, 26261414, 26306921, 31456290, 31589614)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000432643 SCV000891881 pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing
Invitae RCV000432643 SCV001202175 pathogenic not provided 2020-10-20 criteria provided, single submitter clinical testing This sequence change replaces glycine with cysteine at codon 2313 of the USH2A protein (p.Gly2313Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine. This variant is present in population databases (rs199840367, ExAC 0.02%). This variant has been observed in individual(s) with retinitis pigmentosa and to segregate with disease in related individuals (PMID: 26261414, 27032803, 26306921, 28981474, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 384319). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074794 SCV001240391 pathogenic Retinal dystrophy 2019-07-03 criteria provided, single submitter clinical testing
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill RCV001095706 SCV001251524 likely pathogenic Retinitis pigmentosa 39 criteria provided, single submitter research The USH2A c.6937G>T (p.G2313C) variant has been reported in the compound heterozygous state in individuals with isolated RP (PMID: 26261414; 26306921; 27032803; 28981474).
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003268 SCV001161351 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research
Genomics England Pilot Project,Genomics England RCV001095706 SCV001760015 pathogenic Retinitis pigmentosa 39 no assertion criteria provided clinical testing

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