ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.967T>A (p.Leu323Ile)

gnomAD frequency: 0.00001  dbSNP: rs113836576
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061374 SCV001226114 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2022-09-20 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 not expected to disrupt CTNNA3 protein function. ClinVar contains an entry for this variant (Variation ID: 856003). This variant has not been reported in the literature in individuals affected with CTNNA3-related conditions. This variant is present in population databases (rs113836576, gnomAD 0.01%). This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 323 of the CTNNA3 protein (p.Leu323Ile).

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