Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001231949 | SCV001404487 | uncertain significance | Primary dilated cardiomyopathy | 2022-12-02 | 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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: 958732). This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. This variant is present in population databases (rs774708598, gnomAD 0.006%). This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 520 of the TXNRD2 protein (p.Thr520Arg). |
Gene |
RCV002254958 | SCV002526308 | uncertain significance | not provided | 2022-06-09 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function |
Ambry Genetics | RCV003166416 | SCV003857186 | uncertain significance | Cardiovascular phenotype | 2022-12-06 | criteria provided, single submitter | clinical testing | The p.T520R variant (also known as c.1559C>G), located in coding exon 17 of the TXNRD2 gene, results from a C to G substitution at nucleotide position 1559. The threonine at codon 520 is replaced by arginine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |