Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000817291 | SCV000957841 | pathogenic | Duchenne muscular dystrophy | 2018-12-12 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exon 62 of the DMD gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. This variant has been reported several individuals affected with DMD-related muscular dystrophy (PMID: 19074751, Invitae). It has also been reported in an affected individual in the Leiden Duchenne muscular dystrophy mutation database (PMID: 16770791). Sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic. |