ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.2174T>A (p.Leu725Gln)

gnomAD frequency: 0.00001  dbSNP: rs2078479556
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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 RCV001973701 SCV002260657 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2023-05-23 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CTNNA3 protein function. ClinVar contains an entry for this variant (Variation ID: 1474870). This variant has not been reported in the literature in individuals affected with CTNNA3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 725 of the CTNNA3 protein (p.Leu725Gln).

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