Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000990607 | SCV001141622 | pathogenic | Duchenne muscular dystrophy | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000990607 | SCV002228830 | pathogenic | Duchenne muscular dystrophy | 2021-01-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Duchenne muscular dystrophy (PMID: 19937601). ClinVar contains an entry for this variant (Variation ID: 803828). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln2716*) 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). |