Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000809301 | SCV000949448 | pathogenic | Duchenne muscular dystrophy | 2019-12-12 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 49-50 of the DMD gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Deletion of exons 49-50 has been reported in multiple individuals affected with Duchenne or Becker muscular dystrophy (PMID: 9544849, 9619643, 14977063, 15723292, 16030524, 22090376, 22510846, 26911353). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic. |