Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000630666 | SCV000751631 | pathogenic | Duchenne muscular dystrophy | 2017-10-09 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 46 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 variant resulting in the deletion of exon 46 has been reported in an individual with Duchenne muscular dystrophy (DMD) (PMID: 15723292). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic. |