Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000812000 | SCV000952298 | pathogenic | Duchenne muscular dystrophy | 2019-05-15 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 3-6 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 3-6 have been reported in individuals affected with Duchenne muscular dystrophy (PMID: 18646563, 9800909) and an individual with X-linked dilated cardiomyopathy (PMID: 21851881). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic. |