Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001825121 | SCV002074383 | pathogenic | Qualitative or quantitative defects of dystrophin | 2022-01-03 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the duplication of exons 3 in the DMD gene. A presumed nomenclature of c.(93+1_94-1)_(186+1_187-1)dup has been designated for the purposes of this classification. It has been assumed that this is a tandem duplication in direct orientation (Richardson_GIM_2018, Newman_AJHG_2015). Although exact breakpoints of this duplication are not known, it is expected to result in a large in-frame duplication change in the DMD gene. The variant was absent in 16062 control chromosomes. c.(93+1_94-1)_(186+1_187-1)dup has been reported in the literature in individuals affected with Dystrophinopathies (e.g. White_2006, Zimowski_2014, Nallamilli_2021). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic. |