ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.592C>A (p.Pro198Thr)

gnomAD frequency: 0.00002  dbSNP: rs777817815
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001240119 SCV001413042 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2023-02-18 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 198 of the CTNNA3 protein (p.Pro198Thr). This variant is present in population databases (rs777817815, gnomAD 0.003%). 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: 965621). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Ambry Genetics RCV004034639 SCV002650405 uncertain significance not specified 2022-10-17 criteria provided, single submitter clinical testing The p.P198T variant (also known as c.592C>A), located in coding exon 5 of the CTNNA3 gene, results from a C to A substitution at nucleotide position 592. The proline at codon 198 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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