Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032123 | SCV001195430 | pathogenic | Duchenne muscular dystrophy | 2019-12-23 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 46-53 of the DMD gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has been observed in an individual submitted for DMD genetic testing, and in the family member of an individual affected with Duchenne muscular dystrophy (PMID: 17259292, 18752307). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic. |