ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.1936C>T (p.Arg646Cys)

gnomAD frequency: 0.00116  dbSNP: rs111425421
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000861443 SCV001001753 likely benign Arrhythmogenic right ventricular dysplasia 13 2025-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001759644 SCV002005483 likely benign not provided 2020-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029297 SCV003911594 uncertain significance not specified 2023-01-05 criteria provided, single submitter clinical testing The p.R646C variant (also known as c.1936C>T), located in coding exon 13 of the CTNNA3 gene, results from a C to T substitution at nucleotide position 1936. The arginine at codon 646 is replaced by cysteine, an amino acid with highly dissimilar 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.
PreventionGenetics, part of Exact Sciences RCV003948056 SCV004763457 likely benign CTNNA3-related disorder 2022-09-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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