Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000807243 | SCV000947286 | pathogenic | Duchenne muscular dystrophy | 2018-09-28 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 44-50 of the DMD gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. A similar deletion of exons 44-50 has been reported in an individual affected with DMD-related muscular dystrophy (PMID: 11409318). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic. |