Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000813973 | SCV000954360 | pathogenic | Duchenne muscular dystrophy | 2019-02-25 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 46-51 of the DMD gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Deletions encompassing the same exons have been reported in individuals affected with Duchenne muscular dystrophy (PMID: 11257468, 9007319, 9800909). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791). For these reasons, this variant has been classified as Pathogenic. |