Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002427855 | SCV002679664 | uncertain significance | Cardiovascular phenotype | 2021-11-14 | criteria provided, single submitter | clinical testing | The p.G420R variant (also known as c.1258G>A), located in coding exon 14 of the TXNRD2 gene, results from a G to A substitution at nucleotide position 1258. The glycine at codon 420 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV003509736 | SCV004276590 | uncertain significance | Primary dilated cardiomyopathy | 2023-03-10 | criteria provided, single submitter | clinical testing | 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 not expected to disrupt TXNRD2 protein function. ClinVar contains an entry for this variant (Variation ID: 1762359). This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. This variant is present in population databases (rs565329400, gnomAD 0.03%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 420 of the TXNRD2 protein (p.Gly420Arg). |