ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8576G>C (p.Arg2859Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002760483 SCV003012325 uncertain significance not provided 2022-06-04 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 32675063). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 2859 of the USH2A protein (p.Arg2859Pro).
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV003389512 SCV003927073 likely pathogenic Usher syndrome 2022-12-31 criteria provided, single submitter research

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