Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001849968 | SCV002125564 | uncertain significance | Primary dilated cardiomyopathy | 2021-07-04 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with leucine at codon 79 of the TXNRD2 protein (p.Arg79Leu). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and leucine. 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 C0"). ClinVar contains an entry for this variant (Variation ID: 155852). |
Blueprint Genetics | RCV000143974 | SCV000188855 | uncertain significance | Primary familial hypertrophic cardiomyopathy | 2014-01-07 | no assertion criteria provided | clinical testing |