Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000461722 | SCV000563944 | pathogenic | Duchenne muscular dystrophy | 2016-05-23 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 46-59 of the DMD gene. This out-of-frame deletion creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Truncating variants in DMD are known to be pathogenic. A similar deletion of exons 46-59 was reported in an individual affected with Duchenne muscular dystrophy. (PMID:25972034). For these reasons, this variant has been classified as Pathogenic. |