Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001225827 | SCV001398120 | pathogenic | Duchenne muscular dystrophy | 2022-09-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 953523). This premature translational stop signal has been observed in individual(s) with Duchenne or Becker muscular dystrophy (PMID: 16834926). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1902Tyrfs*10) in the DMD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). |
MGZ Medical Genetics Center | RCV001225827 | SCV002581479 | pathogenic | Duchenne muscular dystrophy | 2022-03-10 | criteria provided, single submitter | clinical testing |