Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000547700 | SCV000645024 | pathogenic | Arrhythmogenic right ventricular dysplasia 11 | 2017-11-07 | criteria provided, single submitter | clinical testing | While this particular variant has not been reported in the literature, loss-of-function variants in DSC2 are known to be pathogenic (PMID: 23911551). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal at codon 332 (p.Tyr332*) of the DSC2 gene. It is expected to result in an absent or disrupted protein product. |