Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001358696 | SCV001554508 | pathogenic | Qualitative or quantitative defects of dystrophin | 2021-03-18 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exons 17-29 in the DMD gene. A presumed nomenclature of c.(1992+1_1993-1)_(4071+1_4072-1)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, a known mechanism of disease. The variant was absent in 16120 control chromosomes (gnomAD SV database). c.(1992+1_1993-1)_(4071+1_4072-1)del has been reported in the literature in at least one individual affected with Becker Muscular Dystrophy (Nicolas_2012). Additionally, this variant was observed in one fetus and identified as de novo mutation (Lin_2017). These data indicate that the variant is 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. |