Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001204911 | SCV001376141 | pathogenic | Duchenne muscular dystrophy | 2019-06-07 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu326*) in the DMD gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with DMD-related conditions. This variant has been reported in individual(s) in the Universal Mutation Database (PMID: 10612827). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic. |