Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001375502 | SCV001572349 | pathogenic | Qualitative or quantitative defects of dystrophin | 2021-04-08 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exon 52 in the DMD gene. A presumed nomenclature of c.(7542+1_7543-1)_(7660+1_7661-1)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 frameshift in the DMD gene, a known mechanism of disease. The variant was absent in 16120 control chromosomes (gnomAD, structural variants dataset). The variant, c.(7542+1_7543-1)_(7660+1_7661-1)del, has been reported in the literature in numerous individuals affected with Duchenne Muscular Dystrophy (DMD) (see e.g. Tuffery-Giraud_2009, Flanigan_2009, Deepha_2017, de Almeida_2017). 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. 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. |