Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000819905 | SCV000960590 | pathogenic | Duchenne muscular dystrophy | 2018-07-09 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exons 2-9 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. This variant has been observed in individuals affected with DMD-related dystrophinopathies (PMID: 12111668, 19074751). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic. |