Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000792776 | SCV000932096 | pathogenic | Duchenne muscular dystrophy | 2019-12-26 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 46-50 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, including gross deletions, in DMD are known to be pathogenic. This particular deletion has been reported in the literature in individuals affected with Duchenne or Becker muscular dystrophy (PMID: 22090376, 12324874, 19449031, 18663755). For these reasons, this variant has been classified as Pathogenic. |