ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.332G>T (p.Gly111Val)

dbSNP: rs1850955520
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001338031 SCV001531661 uncertain significance not provided 2022-06-20 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1035196). 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. This variant has not been reported in the literature in individuals affected with USH1C-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 111 of the USH1C protein (p.Gly111Val).

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