Total submissions: 10
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 |
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 | |
Ai |
RCV001044836 | SCV002502718 | likely pathogenic | not provided | 2021-07-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450916 | SCV004182662 | likely pathogenic | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
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, |
RCV001075163 | SCV004707902 | pathogenic | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000041960 | SCV000065656 | likely pathogenic | Rare genetic deafness | 2007-08-28 | no assertion criteria provided | clinical testing | |
Department of Clinical Genetics, |
RCV000787745 | SCV000926750 | likely pathogenic | Retinitis pigmentosa | 2018-04-01 | no assertion criteria provided | research |