ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.1247C>T (p.Ala416Val)

gnomAD frequency: 0.00001  dbSNP: rs1032740164
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651975 SCV000773832 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2017-11-11 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 416 of the CTNNA3 protein (p.Ala416Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Revvity Omics, Revvity RCV000651975 SCV003828728 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2021-02-26 criteria provided, single submitter clinical testing

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