Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000644662 | SCV000766365 | pathogenic | Arrhythmogenic right ventricular dysplasia 11 | 2022-06-19 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exon(s) 2-13 of the DSC2 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may 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. |