Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000805361 | SCV000945314 | uncertain significance | Primary dilated cardiomyopathy | 2018-09-21 | 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TXNRD2-related disease. This variant is present in population databases (rs762714876, ExAC 0.003%). This sequence change replaces tryptophan with arginine at codon 80 of the TXNRD2 protein (p.Trp80Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. |
| Ambry Genetics | RCV002453797 | SCV002737103 | uncertain significance | Cardiovascular phenotype | 2022-09-19 | criteria provided, single submitter | clinical testing | The p.W80R variant (also known as c.238T>C), located in coding exon 4 of the TXNRD2 gene, results from a T to C substitution at nucleotide position 238. The tryptophan at codon 80 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. |