Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001072058 | SCV001237401 | pathogenic | Duchenne muscular dystrophy | 2019-03-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). This variant has been observed in a family affected with Duchenne muscular dystrophy (PMID: 7951251). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Met3145Trpfs*10) in the DMD gene. It is expected to result in an absent or disrupted protein product. |