Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031058 | SCV001194364 | pathogenic | Duchenne muscular dystrophy | 2019-11-21 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 53-55 of the DMD gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Deletions of exons 53-55 have been reported in individuals affected with DMD-related dystrophinopathies (PMID: 23299919, 15643612, 18663755). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic. |