Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000459661 | SCV000563952 | pathogenic | Duchenne muscular dystrophy | 2016-07-22 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 42-43 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. Duplication of exon 43 has been reported in a patient diagnosed with either Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) (PMID: 16917894). In addition, duplication of exon 42 was reported in a patient with either DMD or BMD who also harbored a triplication of exons 43-44 (PMID: 16917894). For these reasons, this variant has been classified as Pathogenic. |