Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV001264104 | SCV001442204 | likely pathogenic | Becker muscular dystrophy; Duchenne muscular dystrophy | 2019-07-19 | criteria provided, single submitter | clinical testing | |
Kariminejad - |
RCV001814298 | SCV001755626 | pathogenic | Abnormality of the musculature | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003621592 | SCV004412549 | pathogenic | Duchenne muscular dystrophy | 2022-11-08 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu3005*) 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). This variant has not been reported in the literature in individuals affected with DMD-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 984098). |