Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001829141 | SCV002095637 | pathogenic | not provided | 2020-09-25 | no assertion criteria provided | clinical testing | This deletion involves exons 5-7 of DMD gene (OMIM 300377). Loss-of-function variants in DMD, such as entire or intragenic deletions and duplications as well as sequence variants, cause X-linked recessive Duchenne muscular dystrophy and Becker muscular dystrophy (OMIM 310200 and 300376) and Cardiomyopathy, dilated, 3B (OMIM 302045). Age of onset and severity of progressive muscular weakness depend on the variants characteristics. In general, in-frame variants have often been seen in patients with milder phenotype, while out-of-frame variants associate with more severe phenotype. Manifesting female carriers may demonstrate variable degrees of symptoms (mild, moderate, or severe muscular dystrophy) depending, in part, on patterns of X-chromosome inactivation. The current deletion is a out-frame deletion. Similar deletions of exons 5-7 have been reported in patients with (Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):230-244.PMID: 31081998; Folia Biol (Praha). 2001;47(3):81-7. PMID: 11409318). Smaller deletions that involve one or two exons between exons 5 to 7 have also been reported in multiple publications (J Zhejiang Univ Sci B. 2019 Sept.;20(9):753-765.PMID: 31379145; PLoS One. 2016 Jan 8;11(1):e0145620.PMID: 26745801; Hum Mutat. 2020 Mar;41(3):668-677.PMID: 31705731 etc.). |