Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000475707 | SCV000563963 | likely pathogenic | Duchenne muscular dystrophy | 2019-12-28 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exon 5 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). This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number gain of exon 5 has been reported in individuals affected with Duchenne or Becker muscular dystrophy (PMID: 16917894, 17259292, 16770791). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |