Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000555300 | SCV000625777 | pathogenic | Duchenne muscular dystrophy | 2017-05-16 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 50-55 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. Duplication of exons 50-55 has been reported in the literature in individuals affected with Becker or Duchenne muscular dystrophy (PMID: 12111668, 16917894). In addition, family studies have indicated that this variant was not present in the parents of an individual with muscular dystrophy, which suggests that it was de novo in that affected individual (Invitae). For these reasons, this variant has been classified as Pathogenic. |