Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000990665 | SCV001141685 | pathogenic | Duchenne muscular dystrophy | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000990665 | SCV002176480 | pathogenic | Duchenne muscular dystrophy | 2022-10-22 | 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: 803877). This premature translational stop signal has been observed in individual(s) with clinical features of DMD-related conditions (PMID: 27593222). This variant is present in population databases (rs772220893, gnomAD 0.001%). This sequence change creates a premature translational stop signal (p.Leu1451Ilefs*18) 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). |