Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000465177 | SCV000563950 | pathogenic | Duchenne muscular dystrophy | 2016-12-21 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 52 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. This particular variant has been reported in the literature in individuals affected with both Duchenne muscular dystrophy and Becker muscular dystrophy (PMID: 22510846, 23914114, 25244321, 26081009). For these reasons, this variant has been classified as Pathogenic. |