ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.2524C>T (p.Arg842Trp)

gnomAD frequency: 0.00034  dbSNP: rs199852825
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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 RCV000651974 SCV000773831 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2025-01-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 842 of the CTNNA3 protein (p.Arg842Trp). This variant is present in population databases (rs199852825, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. 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: 541664). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GeneDx RCV001756098 SCV002007125 likely benign not provided 2019-08-27 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003987646 SCV002738735 uncertain significance not specified 2024-03-18 criteria provided, single submitter clinical testing The p.R842W variant (also known as c.2524C>T), located in coding exon 17 of the CTNNA3 gene, results from a C to T substitution at nucleotide position 2524. The arginine at codon 842 is replaced by tryptophan, an amino acid with 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987646 SCV004803413 likely benign not specified 2024-01-15 criteria provided, single submitter clinical testing

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