Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001210073 | SCV001381538 | pathogenic | Duchenne muscular dystrophy | 2019-07-22 | 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 an individual with DMD-related conditions (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro2394Thrfs*16) in the DMD gene. It is expected to result in an absent or disrupted protein product. |