Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033646 | SCV001196953 | pathogenic | Duchenne muscular dystrophy | 2019-07-20 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 45-54 of the DMD gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Similar deletions have been observed in several individuals affected with a DMD-related muscular dystrophy (PMID: 22090376, 11257468, 15723292, 26911353, 9800909). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic. |