Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033479 | SCV001196786 | pathogenic | Duchenne muscular dystrophy | 2019-10-11 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 52-54 of the DMD gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has been observed in individuals with Duchenne or Becker muscular dystrophy (PMID: 11409318, 24928015, 25482253). In at least one individual the variant was observed to be de novo. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic. |