Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000805207 | SCV000945155 | uncertain significance | Arrhythmogenic right ventricular dysplasia 13 | 2022-10-13 | criteria provided, single submitter | clinical testing | This variant is present in population databases (no rsID available, gnomAD 0.01%). 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. 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. ClinVar contains an entry for this variant (Variation ID: 650116). This variant has not been reported in the literature in individuals affected with CTNNA3-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 224 of the CTNNA3 protein (p.Ala224Pro). |
| Ambry Genetics | RCV003380730 | SCV004096983 | uncertain significance | Inborn genetic diseases | 2023-08-13 | criteria provided, single submitter | clinical testing | The p.A224P variant (also known as c.670G>C), located in coding exon 5 of the CTNNA3 gene, results from a G to C substitution at nucleotide position 670. The alanine at codon 224 is replaced by proline, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |