Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000807244 | SCV000947287 | pathogenic | Duchenne muscular dystrophy | 2019-10-31 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 56-62 of the DMD gene. While the exact position of the duplicated exons cannot be determined from this data, sub-genic duplications are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. Similar duplications of exons 56-62 have been reported in individuals affected with Duchenne muscular dystrophy (PMID: 19602481, 28610567). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic. |