Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001261484 | SCV001438781 | pathogenic | Qualitative or quantitative defects of dystrophin | 2022-10-31 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exons 49-51 in the DMD gene. A presumed nomenclature of c.(7098+1_7099-1)_(7542+1_7543-1)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. The variant was absent in 16120 control chromosomes (gnomAD, Structural variants). Deletion of DMD exons 49-51 has been reported in individuals affected with Dystrophinopathies, including X-linked dilated cardiomyopathy (XLDC; e.g. Muntoni_1997, Kaspar_2009), Duchenne Muscular Dystrophy (DMD; e.g. Mital_1998), and Becker Muscular Dystrophy (BMD; e.g. UMD-France Database). These data indicate that the variant is likely to be associated with disease. 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. |