Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001052935 | SCV001217171 | pathogenic | Duchenne muscular dystrophy | 2020-08-14 | 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 not been reported in the literature in individuals with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 849051). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys1639Asnfs*13) in the DMD gene. It is expected to result in an absent or disrupted protein product. |