ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) (rs111033263)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668014 SCV000792555 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-06-30 criteria provided, single submitter clinical testing
Invitae RCV001044836 SCV001208656 pathogenic not provided 2019-12-24 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 3267 of the USH2A protein (p.Cys3267Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Usher syndrome or isolated retinitis pigmentosa (PMID: 17085681, 25404053, 30190494, 22004887). 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: 48634). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001075163 SCV001240775 pathogenic Retinal dystrophy 2018-10-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041960 SCV000065656 likely pathogenic Rare genetic deafness 2007-08-28 no assertion criteria provided clinical testing
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787745 SCV000926750 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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