Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002302508 | SCV002598772 | pathogenic | Qualitative or quantitative defects of dystrophin | 2022-09-01 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exons 48-55 in the DMD gene. A presumed nomenclature of c.(6912+1_6913-1)_(8217+1_8218-1)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, affecting the rod domain, which is comprised of 24 spectrin-like repeats, interspersed with 4 hinge domains (InterPro). The variant was absent in 16110 control chromosomes (gnomAD database, Structural Variants dataset). The variant, c.(6912+1_6913-1)_(8217+1_8218-1)del, has been reported in the literature in multiple individuals affected with Dystrophinopathies (e.g. Tuffery-Giraud_2009, Nicolas_2012, Neri_2020, Tong_2020, Alimohamed_2021). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. At least 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. |