Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003155742 | SCV003844646 | pathogenic | Qualitative or quantitative defects of dystrophin | 2023-02-02 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exons 48-49 in the DMD gene. A presumed nomenclature of c.(6912+1_6913-1)_(7200+1_7201-1)del has been designated for the purposes of this classification. Although exact breakpoints of this deletion are not known, it is expected to result in a large in-frame deletion change in the DMD gene, a known mechanism of disease. The variant was absent in 16115 control chromosomes (gnomAD structural variants dataset). c.(6912+1_6913-1)_(7200+1_7201-1)del has been reported in the literature in individuals affected with Dystrophinopathies, primarily in patients affected with Becker muscular dystrophy (BMD), but was also found in patients with X-linked dilated cardiomyopathy (DCM), and Duchenne muscular dystrophy (DMD) (e.g. Beggs_1991, Prior_2005, Diegoli_2011). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |