ClinVar Miner

Submissions for variant NM_005982.4(SIX1):c.775G>T (p.Gly259Cys)

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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 RCV003075541 SCV003469718 uncertain significance Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23 2022-06-14 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with SIX1-related conditions. This variant is present in population databases (rs779084301, gnomAD 0.006%). This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 259 of the SIX1 protein (p.Gly259Cys).

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