Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000990635 | SCV001141651 | pathogenic | Duchenne muscular dystrophy | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000990635 | SCV002186698 | pathogenic | Duchenne muscular dystrophy | 2022-04-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp2119*) 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 is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of dystrophinopathy (PMID: 27363342, 28859693). ClinVar contains an entry for this variant (Variation ID: 803851). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV001784496 | SCV002574220 | pathogenic | not provided | 2022-03-14 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Based on the understanding of this genetic alteration, it may be amenable to nonsense read-through therapy that is currently available or in clinical trial; This variant is associated with the following publications: (PMID: 34297739, 27363342) |