Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001042006 | SCV001205663 | pathogenic | Duchenne muscular dystrophy | 2019-12-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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 with DMD-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu2866Aspfs*27) in the DMD gene. It is expected to result in an absent or disrupted protein product. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001199940 | SCV001370730 | likely pathogenic | Qualitative or quantitative defects of dystrophin | 2020-05-21 | criteria provided, single submitter | clinical testing | Variant summary: DMD c.8596_8600delCTTGA (p.Leu2866AspfsX27) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 182912 control chromosomes (gnomAD). To our knowledge, no occurrence of c.8596_8600delCTTGA in individuals affected with Dystrophinopathies and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submitter (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |