Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000813931 | SCV000954315 | uncertain significance | Primary dilated cardiomyopathy | 2020-06-16 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs753524446, ExAC 0.06%). This sequence change replaces lysine with arginine at codon 127 of the TXNRD2 protein (p.Lys127Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine. 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 tolerated, 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. ClinVar contains an entry for this variant (Variation ID: 657342). |
Gene |
RCV003442106 | SCV004169336 | uncertain significance | not provided | 2023-05-18 | criteria provided, single submitter | clinical testing | Has been reported in an individual with DCM (Mazzarotto et al., 2020); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31983221) |