Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033822 | SCV001197129 | likely pathogenic | Duchenne muscular dystrophy | 2019-02-19 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exons 3-43 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 an individual affected with Duchenne muscular dystrophy (PMID: 8034300). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). 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. |