ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.1175C>T (p.Thr392Met)

gnomAD frequency: 0.00009  dbSNP: rs146777494
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549297 SCV000654837 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2023-04-13 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 474814). This variant has not been reported in the literature in individuals affected with CTNNA3-related conditions. This variant is present in population databases (rs146777494, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 392 of the CTNNA3 protein (p.Thr392Met). 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. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.

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