Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000471737 | SCV000563968 | pathogenic | Duchenne muscular dystrophy | 2016-06-25 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 8-15 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. Loss-of-function variants in DMD are known to be pathogenic. A similar deletion has been reported in the Universal Mutation Database in individuals affected with Duchenne muscular dystrophy (PMID: 19367636). For these reasons, this variant has been classified as Pathogenic. |