ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.549del (p.Asp182_Trp183insTer)

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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 RCV003324477 SCV004029845 pathogenic Qualitative or quantitative defects of dystrophin 2023-07-27 criteria provided, single submitter clinical testing Variant summary: DMD c.549delG (p.Trp183X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Variants downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 183272 control chromosomes (gnomAD). To our knowledge, no occurrence of c.549delG in individuals affected with Dystrophinopathies and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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