Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032359 | SCV001195666 | pathogenic | Duchenne muscular dystrophy | 2019-09-20 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exons 56-61 of the DMD gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. Copy number gains of exons 56-61 have been observed in individuals affected with Duchenne muscular dystrophy (PMID: 17854090, 31081998). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic. |