Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000463343 | SCV000563964 | pathogenic | Duchenne muscular dystrophy | 2016-12-24 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 2-7 of the DMD gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. Duplications encompassing the same exons have been reported in the literature in individuals affected with muscular dystrophy (PMID: 2063877, 18752307, 26911353, 16917894, 8034300). Additionally, a similar duplication was reported to segregate with disease in a family affected with Becker muscular dystrophy (PMID: 2316519) and in a family affected with cardiomyopathy (PMID: 9441825). For these reasons, this variant has been classified as Pathogenic. |