ClinVar Miner

Submissions for variant NC_000023.10:g.(32235181_32305645)_(32383317_32398626)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 RCV004691027 SCV005185080 pathogenic Qualitative or quantitative defects of dystrophin 2024-05-22 criteria provided, single submitter clinical testing Variant summary: The variant involves the deletion of exons 35-43 in the DMD gene. This Copy Number Variant (CNV) is expected to alter the reading frame and predicted to result in a truncation or absence of the encoded protein due to nonsense mediated decay (NMD). A presumed nomenclature of c.(4845+1_4846-1)_(6290+1_6291-1)del has been designated for the purposes of this classification. The variant was absent in 16120 control chromosomes (gnomAD). c.(4845+1_4846-1)_(6290+1_6291-1)del has been reported in the literature in an individual(s) affected with Duchenne Muscular Dystrophy (Zamani_2022). The following publication has been ascertained in the context of this evaluation (PMID: 35501714). ClinVar contains an entry for this variant (Variation ID: 1459753). Based on the evidence outlined above, the variant was classified as pathogenic.

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