ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.431T>C (p.Val144Ala)

dbSNP: rs758058375
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001373945 SCV001570693 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2024-10-12 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 144 of the CTNNA3 protein (p.Val144Ala). This variant is present in population databases (rs758058375, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CTNNA3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1064036). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt CTNNA3 protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV001373945 SCV002797584 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2021-08-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004907714 SCV005568088 uncertain significance not specified 2024-07-25 criteria provided, single submitter clinical testing The c.431T>C (p.V144A) alteration is located in exon 4 (coding exon 3) of the CTNNA3 gene. This alteration results from a T to C substitution at nucleotide position 431, causing the valine (V) at amino acid position 144 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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