Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001261463 | SCV001438760 | pathogenic | Qualitative or quantitative defects of dystrophin | 2019-10-14 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA involves the deletion of exons 14-19 in the DMD gene (predicted consequence: frameshift; p.Val535Argfs*15) (DOVE database). A presumed nomenclature of c.(1602+1_1603-1)_(2380+1_2381-1)del has been designated for the purposes of this classification. The variant was absent in about 20972 control chromosomes (gnomAD SVs database). c.(1602+1_1603-1)_(2380+1_2381-1)del has been reported as deletion of exons 14-19 in the literature in an individual with Duchenne Muscular Dystrophy and in another with unspecified dystrophinopathy (Mah_2011). In addition, deletions of exons14-15, exons14-17 and exons14-18 have been reported in multiple patients with Dystrophinopathies (HGMD database).To our knowledge, no experimental evidence demonstrating its impact on protein function has been reported. No ClinVar submitters have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic. |