Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000538132 | SCV000625810 | pathogenic | Duchenne muscular dystrophy | 2021-09-25 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exon(s) 12 of the DMD gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may result in an absent or disrupted protein product. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). A similar copy number variant has been observed in individuals with DMD-related muscular dystrophy (PMID: 12111668, 16917894). For these reasons, this variant has been classified as Pathogenic. |