ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.959C>T (p.Thr320Met)

gnomAD frequency: 0.00004  dbSNP: rs139460414
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036763 SCV001200143 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2024-01-21 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 320 of the CTNNA3 protein (p.Thr320Met). This variant is present in population databases (rs139460414, gnomAD 0.008%). 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: 835794). 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 expected to disrupt CTNNA3 protein function with a positive 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 RCV002372749 SCV002690825 uncertain significance Inborn genetic diseases 2022-02-20 criteria provided, single submitter clinical testing The p.T320M variant (also known as c.959C>T), located in coding exon 6 of the CTNNA3 gene, results from a C to T substitution at nucleotide position 959. The threonine at codon 320 is replaced by methionine, an amino acid with 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.
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine RCV001036763 SCV004171284 uncertain significance Arrhythmogenic right ventricular dysplasia 13 criteria provided, single submitter clinical testing

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