ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3529G>T (p.Gly1177Cys)

gnomAD frequency: 0.00001  dbSNP: rs923020422
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001347649 SCV001541919 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with cysteine at codon 1177 of the USH2A protein (p.Gly1177Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. 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"). 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.

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