Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001829155 | SCV002095669 | pathogenic | not provided | 2020-10-06 | no assertion criteria provided | clinical testing | This deletion involves exons 45 of DMD gene (OMIM 300377). Adjacent exons (44 and 46) of DMD gene showed normal copy number. This is an out-of-frame deletion. 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. Similar deletions of exon 45 have been reported in patients ( Hum Mutat. 2020 Mar;41(3):668-677. PMID: 31705731; Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):230-244. PMID: 31081998; J Neurol Sci. 2016 Jun 15;365:22-30. PMID: 27206868; J Hum Genet. 2016 Jun;61(6):483-9. PMID: 26911353; Genome Res. 2012 Jan;22(1):25-34. PMID: 22090376 etc.). |