Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mendelics | RCV000990655 | SCV001141674 | pathogenic | Duchenne muscular dystrophy | 2019-05-28 | criteria provided, single submitter | clinical testing | |
| Athena Diagnostics Inc | RCV000991901 | SCV001143749 | pathogenic | not provided | 2018-09-30 | criteria provided, single submitter | clinical testing | The variant creates a premature nonsense codon, and is therefore predicted to significantly disrupt the protein structure. Found in at least one symptomatic patient, and not found in general population data. |
| Invitae | RCV000990655 | SCV004298905 | pathogenic | Duchenne muscular dystrophy | 2023-11-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1565*) 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 Duchenne muscular dystrophy (PMID: 11524473, 25761239). This variant is also known as c.4901C>T. ClinVar contains an entry for this variant (Variation ID: 803868). For these reasons, this variant has been classified as Pathogenic. |