Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002509470 | SCV000723446 | uncertain significance | not provided | 2022-12-30 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002331058 | SCV002635423 | uncertain significance | Cardiovascular phenotype | 2021-12-03 | criteria provided, single submitter | clinical testing | The p.D393N variant (also known as c.1177G>A), located in coding exon 13 of the TXNRD2 gene, results from a G to A substitution at nucleotide position 1177. The aspartic acid at codon 393 is replaced by asparagine, an amino acid with highly 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. |
Invitae | RCV002532765 | SCV002991437 | uncertain significance | Primary dilated cardiomyopathy | 2023-09-08 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 393 of the TXNRD2 protein (p.Asp393Asn). This variant is present in population databases (rs369142382, gnomAD 0.04%). 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: 512478). 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. |