Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032581 | SCV001195888 | pathogenic | Duchenne muscular dystrophy | 2019-11-13 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 46-47 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. This particular variant has been reported in the literature in many individuals affected with Duchenne muscular dystrophy (PMID: 22090376, 18752307, 15723292, 9800909, 18683213, 20944443, 24217213). For these reasons, this variant has been classified as Pathogenic. |