ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.2630A>C (p.Lys877Thr)

gnomAD frequency: 0.00001  dbSNP: rs781167292
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651970 SCV000773827 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2017-09-22 criteria provided, single submitter clinical testing This sequence change replaces lysine with threonine at codon 877 of the CTNNA3 protein (p.Lys877Thr). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and threonine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with CTNNA3-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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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