ClinVar Miner

Submissions for variant GRCh37/hg19 Xp21.1(chrX:31684916-31875673)x0

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002474492 SCV002771888 pathogenic not provided 2022-04-25 criteria provided, single submitter clinical testing The deletion Xp21.1 interval involves approximately exons 49-53 of the DMD (dystrophin) gene (OMIM 300377). X-linked recessive dystrophinopathies including Becker Muscular Dystrophy (BMD) (OMIM 300376), Duchenne Muscular Dystrophy (DMD) (OMIM 310200), and DMD-Associated Dilated Cardiomyopathy (OMIM 302045) are X-linked recessive disorders caused by entire or intragenic DMD deletions and duplications as well as sequence variants, primarily affecting the isoform expressed in the skeletal muscles. Age of onset and severity of progressive muscular weakness depend on the mutation characteristics (i.e., out- or in-frame in the case of exonic deletions or duplications). Manifesting carriers may demonstrate variable degrees of symptoms (mild, moderate, or severe muscular dystrophy) depending, in part, on patterns of X-chromosome inactivation. Carrier females might be at risk for dilated cardiomyopathy (DCM) (Darras BT et al., GeneReviews [Internet]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1119/).

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