Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001042939 | SCV001206648 | 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 840840). This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. This variant is present in population databases (rs377598025, gnomAD 0.002%). This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 386 of the TXNRD2 protein (p.Ser386Tyr). |
Ambry Genetics | RCV002363584 | SCV002624758 | uncertain significance | Cardiovascular phenotype | 2022-08-27 | criteria provided, single submitter | clinical testing | The p.S386Y variant (also known as c.1157C>A), located in coding exon 13 of the TXNRD2 gene, results from a C to A substitution at nucleotide position 1157. The serine at codon 386 is replaced by tyrosine, an amino acid with dissimilar 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |