Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000796261 | SCV000935766 | uncertain significance | Primary dilated cardiomyopathy | 2018-07-17 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs760799626, ExAC 0.01%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with TXNRD2-related disease. This sequence change replaces arginine with histidine at codon 249 of the TXNRD2 protein (p.Arg249His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. |
| Ambry Genetics | RCV004994011 | SCV005521994 | uncertain significance | Cardiovascular phenotype | 2024-12-09 | criteria provided, single submitter | clinical testing | The p.R249H variant (also known as c.746G>A), located in coding exon 10 of the TXNRD2 gene, results from a G to A substitution at nucleotide position 746. The arginine at codon 249 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |