ClinVar Miner

Submissions for variant NM_001377458.1(CLCC1):c.1052A>G (p.Tyr351Cys)

dbSNP: rs150318832
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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 RCV002041104 SCV002316400 uncertain significance not provided 2021-10-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CLCC1-related conditions. This sequence change replaces tyrosine with cysteine at codon 351 of the CLCC1 protein (p.Tyr351Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs150318832, ExAC 0.002%). 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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