ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1772A>G (p.Asp591Gly)

dbSNP: rs2102610850
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001908998 SCV002169830 uncertain significance not provided 2022-07-19 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1403327). This missense change has been observed in individuals with clinical features of Usher syndrome and/or deafness (PMID: 26927203, 28000701; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 591 of the USH2A protein (p.Asp591Gly).

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