ClinVar Miner

Submissions for variant NC_000023.11:g.(31875374_31929595)_(31968515_32216915)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 RCV001261478 SCV001438775 pathogenic Qualitative or quantitative defects of dystrophin 2020-01-23 criteria provided, single submitter clinical testing Variant summary: This variant identified by MLPA involves the deletion of exons 45-47 in the central rod domain of DMD gene (Predicted consequence:Deletion without frame shift: p.(Glu2146_Val2304del); DOVE database). A presumed nomenclature of c.(6438+1_6439-1)_(6912+1_6913-1)del has been designated for the purposes of this classification. The variant was absent in in 16117 control chromosomes in the gnomAD SV database. Deletion of exons 45-47 in the DMD gene has been reported in multiple individuals affected with Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) (e.g. Beggs _1991, Fajkusova_2001, Xu_2018, Keegan_2019). Three other clinical diagnostic laboratories have submitted clinical significance assesssments for this variant to ClinVar (evaluation after 2014) and cited the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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