ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs111033263
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Total submissions: 10
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV001044836 SCV001208656 pathogenic not provided 2023-12-20 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 3267 of the USH2A protein (p.Cys3267Arg). This variant is present in population databases (rs111033263, gnomAD 0.006%). This missense change has been observed in individual(s) with Usher syndrome or isolated retinitis pigmentosa (PMID: 17085681, 22004887, 25404053, 30190494). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 48634). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt USH2A protein function with a positive predictive value of 95%. 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
AiLife Diagnostics, AiLife Diagnostics RCV001044836 SCV002502718 likely pathogenic not provided 2021-07-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450916 SCV004182662 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450915 SCV004182663 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003450916 SCV004208283 pathogenic Retinitis pigmentosa 39 2024-02-08 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV001075163 SCV004707902 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041960 SCV000065656 likely pathogenic Rare genetic deafness 2007-08-28 no assertion criteria provided clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787745 SCV000926750 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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