ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.1231A>G (p.Ile411Val)

gnomAD frequency: 0.00011  dbSNP: rs372808360
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205894 SCV000261995 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2024-01-08 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 411 of the CTNNA3 protein (p.Ile411Val). This variant is present in population databases (rs372808360, gnomAD 0.06%), 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: 220976). 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.
Fulgent Genetics, Fulgent Genetics RCV000205894 SCV000896068 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001753621 SCV002006643 likely benign not provided 2020-04-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000205894 SCV003828726 likely benign Arrhythmogenic right ventricular dysplasia 13 2023-06-01 criteria provided, single submitter clinical testing

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