ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1571C>A (p.Ala524Asp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002594411 SCV002957849 pathogenic not provided 2022-02-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 524 of the USH2A protein (p.Ala524Asp). This variant is present in population databases (rs772624410, gnomAD 0.002%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 30902645, 33576794). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Ala524 amino acid residue in USH2A. Other variant(s) that disrupt this residue have been observed in individuals with USH2A-related conditions (PMID: 30337596, 30902645, 33576794), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003465791 SCV004208417 likely pathogenic Retinitis pigmentosa 39 2024-03-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005008655 SCV005643279 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2024-03-07 criteria provided, single submitter clinical testing

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