Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000530715 | SCV000625801 | pathogenic | Duchenne muscular dystrophy | 2017-05-01 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 43 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 in DMD are known to be pathogenic. A similar copy number variant has been reported in the literature in multiple individuals affected with DMD-related muscular dystrophy (PMID: 18353051,  11381192, 18752307). For these reasons, this variant has been classified as Pathogenic. |