Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033127 | SCV001196434 | pathogenic | Duchenne muscular dystrophy | 2019-09-13 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 46-52 of the DMD gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. A similar deletion of exons 46-52 has been reported as de novo or inherited in individuals affected with Duchenne muscular dystrophy (PMID: 12754415, 9007319). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic. |