Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000471518 | SCV000563962 | pathogenic | Duchenne muscular dystrophy | 2016-07-23 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 42-43 of the DMD gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in DMD are known to be pathogenic. Gross deletions encompassing the same exons as this copy number variant have been reported in individuals affected with Duchenne Muscular Dystrophy (PMID: 15655674, 18752307, 21896784, 24099565). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). For these reasons, this variant has been classified as Pathogenic. |