Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001261468 | SCV001438765 | pathogenic | Qualitative or quantitative defects of dystrophin | 2019-10-17 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exon 42-43 in the DMD gene. A presumed nomenclature of c.(5922+1_5923-1)_(6290+1_6291-1)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 out-of-frame deletion change in the DMD gene, a known mechanism of disease. The variant was absent in 21430 control chromosomes (gnomAD SVs). The variant, c.(5922+1_5923-1)_(6290+1_6291-1)del, has been reported in the literature in multiple individuals affected with DMD, BMD, intermediate muscular dystrophy or neuromuscular disorders (Morandi_1995, Janssen_2005, delGaudio_2008, Piluso_2011, Anthony_2014). One clinical diagnostic laboratory has submitted clinical-significance assessment 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. |