Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000817272 | SCV000957822 | pathogenic | Duchenne muscular dystrophy | 2021-06-30 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 45-50 of the DMD gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Deletion of exons 45-50 has been reported in many individuals affected with Duchenne or Becker muscular dystrophy (PMID: 22090376, 25244321, 22510846, 18752307, 15723292, 9800909, 19449031). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic. |