Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000232891 | SCV000289537 | uncertain significance | Primary dilated cardiomyopathy | 2021-07-19 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. 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. ClinVar contains an entry for this variant (Variation ID: 155853). This variant is present in population databases (rs200162480, ExAC 0.006%). This sequence change creates a premature translational stop signal (p.Arg441*) in the TXNRD2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TXNRD2 cause disease. |
Blueprint Genetics | RCV000143975 | SCV000188856 | uncertain significance | Primary familial hypertrophic cardiomyopathy | 2013-12-20 | no assertion criteria provided | clinical testing |