ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5447T>G (p.Val1816Gly)

dbSNP: rs777011507
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073280 SCV001238816 uncertain significance Retinal dystrophy 2018-10-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002554652 SCV003524056 pathogenic not provided 2024-02-05 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1816 of the USH2A protein (p.Val1816Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of Usher syndrome (PMID: 27460420; Invitae). ClinVar contains an entry for this variant (Variation ID: 865788). 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 not expected to disrupt USH2A protein function with a negative predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005012535 SCV005640789 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2024-02-02 criteria provided, single submitter clinical testing

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