Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001244643 | SCV001417877 | pathogenic | Duchenne muscular dystrophy | 2019-09-29 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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 an individual affected with Duchenne muscular dystrophy (PMID: 21515508). This sequence change creates a premature translational stop signal (p.Gln453*) in the DMD gene. It is expected to result in an absent or disrupted protein product. |