Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033303 | SCV001196610 | pathogenic | Duchenne muscular dystrophy | 2019-06-17 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 19 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 deletion of exons 19 has been reported in several individuals affected with DMD-related muscular dystrophy (PMID: 11381192, 18353051). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic. |