Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000794136 | SCV000933526 | pathogenic | Duchenne muscular dystrophy | 2018-12-04 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 51-55 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 51-55 has been reported in individuals affected with DMD-related muscular dystrophy (PMID: 22090376, 15841391, 16030524, 9800909, 27206868, 21228398). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic. |