ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7871C>T (p.Pro2624Leu)

gnomAD frequency: 0.00002  dbSNP: rs748455430
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671207 SCV000796160 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2017-12-04 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074307 SCV001239880 uncertain significance Retinal dystrophy 2019-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531272 SCV003524077 pathogenic not provided 2023-11-10 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2624 of the USH2A protein (p.Pro2624Leu). This variant is present in population databases (rs748455430, gnomAD 0.01%). This missense change has been observed in individual(s) with deafness, non-syndromic retinitis pigmentosa, and/or Usher syndrome (PMID: 28000701, 29625443, 32675063). 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: 555391). 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.
Baylor Genetics RCV003459622 SCV004208240 likely pathogenic Retinitis pigmentosa 39 2023-12-10 criteria provided, single submitter clinical testing

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