Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001038836 | SCV001202334 | pathogenic | Arrhythmogenic right ventricular dysplasia 11 | 2019-12-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu90*) in the DSC2 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DSC2 are known to be pathogenic (PMID: 23911551). This variant has not been reported in the literature in individuals with DSC2-related conditions. This variant is not present in population databases (ExAC no frequency). |
Laboratory for Molecular Medicine, |
RCV004017778 | SCV004848037 | uncertain significance | Arrhythmogenic right ventricular cardiomyopathy | 2017-08-01 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |