ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.1771G>A (p.Glu591Lys)

gnomAD frequency: 0.00001  dbSNP: rs769809500
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248588 SCV001422087 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2022-08-15 criteria provided, single submitter clinical testing This variant is present in population databases (rs769809500, gnomAD 0.005%). 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: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 972536). This variant has not been reported in the literature in individuals affected with CTNNA3-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 591 of the CTNNA3 protein (p.Glu591Lys).

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