Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000801619 | SCV000941403 | uncertain significance | Primary dilated cardiomyopathy | 2023-01-02 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 346 of the TXNRD2 protein (p.Arg346Gln). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TXNRD2 protein function. ClinVar contains an entry for this variant (Variation ID: 647175). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 31983221). This variant is present in population databases (rs201349663, gnomAD 0.06%). |
Fulgent Genetics, |
RCV002495074 | SCV002775718 | uncertain significance | Glucocorticoid deficiency 5 | 2021-10-07 | criteria provided, single submitter | clinical testing |