Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001042938 | SCV001206647 | uncertain significance | Primary dilated cardiomyopathy | 2022-03-03 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C45"). ClinVar contains an entry for this variant (Variation ID: 840839). This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. This variant is present in population databases (rs371547623, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 376 of the TXNRD2 protein (p.Arg376Gly). |
Ambry Genetics | RCV002445238 | SCV002753950 | uncertain significance | Cardiovascular phenotype | 2022-08-27 | criteria provided, single submitter | clinical testing | The p.R376G variant (also known as c.1126A>G), located in coding exon 13 of the TXNRD2 gene, results from an A to G substitution at nucleotide position 1126. The arginine at codon 376 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. 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. |