Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuromuscular Diagnostic Laboratory, |
RCV001174501 | SCV001237449 | pathogenic | Duchenne muscular dystrophy | 2019-10-10 | criteria provided, single submitter | research | This 4 year-old male patient is suspected to have a Duchenne muscular dystrophy based on clinical data supported by histological assessment of a muscle biopsy. |
Centogene AG - |
RCV001174501 | SCV001426628 | likely pathogenic | Duchenne muscular dystrophy | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001174501 | SCV001585866 | pathogenic | Duchenne muscular dystrophy | 2022-01-14 | 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: 917479). This premature translational stop signal has been observed in individual(s) with DMD-related conditions (PMID: 30293248). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn428Ilefs*9) 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). |