Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003122654 | SCV003793064 | pathogenic | Arrhythmogenic right ventricular dysplasia 11 | 2022-03-23 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 2 of the DSC2 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in DSC2 are known to be pathogenic (PMID: 23911551). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. For these reasons, this variant has been classified as Pathogenic. |