Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002474581 | SCV002771977 | pathogenic | not provided | 2022-02-28 | criteria provided, single submitter | clinical testing | This imbalance may cause phenotypic and/or developmental abnormalities. This deletion includes one exon (exon 62) of the DMD (dystrophin) gene (OMIM 300377). Deletion of this single exon causes out of frame translation. 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 variations, primarily affecting the isoform expressed in the skeletal muscles. 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 BTet al., GeneReviews [Internet]. Available from:https://www.ncbi.nlm.nih.gov/books/NBK1119/; Flanigan KM et al., HumMutat. 2009 Dec;30(12):1657-66. PMID: 19937601). The phenotype of a DMD/BMD gene alteration is best correlated with the degree of dystrophin protein expression. |