Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000803910 | SCV000943798 | pathogenic | Duchenne muscular dystrophy | 2019-12-02 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 48-50 of the DMD gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This deletion has been reported in many individuals affected with Duchenne muscular dystrophy (PMID: 10392746, 9800909, 16917894). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic. |