ClinVar Miner

Submissions for variant NC_000023.11:g.(31968515_32216915)_(32217064_32287528)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001261469 SCV001438766 pathogenic Qualitative or quantitative defects of dystrophin 2019-12-20 criteria provided, single submitter clinical testing Variant summary: This variant identified by MLPA involves the deletion of exons 44 in the central rod domain of DMD gene (Predicted consequence: Deletion causing frame shift: p.(Arg2098Asnfs*16); DOVE database). A presumed nomenclature of c.(6290+1_6291-1)_(6438+1_6439-1)del has been designated for the purposes of this classification. The variant was absent in in 21648 control chromosomes (gnomAD SVs database). c.(6290+1_6291-1)_(6438+1_6439-1)del has been reported in individuals affected with Duchenne muscular dystrophy or Becker muscular dystrophy (delGaudio_2008, Anthony_2014, Chen_2014). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One ClinVar submitter (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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