Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000460504 | SCV000563958 | pathogenic | Duchenne muscular dystrophy | 2016-12-08 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 49-50 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. This particular variant has been reported in the literature in multiple individuals affected with Duchenne or Becker muscular dystrophy (PMID: 26911353, 22090376, 9544849, 9619643, 22510846, 14977063, 16030524, 15723292). For these reasons, this variant has been classified as Pathogenic. |