ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6925T>C (p.Cys2309Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003554896 SCV004292399 pathogenic not provided 2024-01-03 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 2309 of the USH2A protein (p.Cys2309Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with retinitis pigmentosa and/or Usher syndrome (PMID: 24265693, 36011334). 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%. This variant disrupts the p.Cys2309 amino acid residue in USH2A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 23591405, 26927203; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004574093 SCV005055773 likely pathogenic Retinitis pigmentosa 39 2023-11-29 criteria provided, single submitter clinical testing

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