Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000708387 | SCV000837497 | pathogenic | Duchenne muscular dystrophy | 2022-09-10 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 53 of the DMD gene. This deletion is out-of-frame, and is expected to create a premature termination codon and 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 Duchenne muscular dystrophy (PMID: 12111668, 21515508, 21969337, 27206868). For these reasons, this variant has been classified as Pathogenic. |