ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.1219C>T (p.Arg407Trp)

gnomAD frequency: 0.00010  dbSNP: rs138643733
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807144 SCV000947183 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2024-01-02 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 407 of the CTNNA3 protein (p.Arg407Trp). This variant is present in population databases (rs138643733, 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: 651726). 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 with a negative predictive value of 80%. 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 RCV003166263 SCV003872835 uncertain significance Inborn genetic diseases 2023-03-01 criteria provided, single submitter clinical testing The c.1219C>T (p.R407W) alteration is located in exon 9 (coding exon 8) of the CTNNA3 gene. This alteration results from a C to T substitution at nucleotide position 1219, causing the arginine (R) at amino acid position 407 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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