Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031701 | SCV001195007 | pathogenic | Duchenne muscular dystrophy | 2019-04-08 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 3-11 of the DMD gene. This out-of-frame deletion creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Truncating variants in DMD are known to be pathogenic. A deletion encompassing the same exons has been reported in the literature in an individual affected with Becker muscular dystrophy (PMID: 18348289) and an individual affected with a phenotype intermediate between Duchenne and Becker muscular dystrophy (PMID: 25482253). For these reasons, this variant has been classified as Pathogenic. |