ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.2563A>G (p.Lys855Glu)

dbSNP: rs2133105906
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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 RCV001886118 SCV002146950 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2022-03-18 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 855 of the CTNNA3 protein (p.Lys855Glu). This variant has not been reported in the literature in individuals affected with CTNNA3-related conditions. 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: "Not Available"; Align-GVGD: "Class C0").

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