Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001241037 | SCV001414026 | uncertain significance | Primary dilated cardiomyopathy | 2023-07-10 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 131 of the TXNRD2 protein (p.Ala131Gly). This variant is present in population databases (rs368359642, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 966377). 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. 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 | RCV002375274 | SCV002625066 | uncertain significance | Cardiovascular phenotype | 2022-07-14 | criteria provided, single submitter | clinical testing | The p.A131G variant (also known as c.392C>G), located in coding exon 5 of the TXNRD2 gene, results from a C to G substitution at nucleotide position 392. The alanine at codon 131 is replaced by glycine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |