Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000540384 | SCV000625793 | pathogenic | Duchenne muscular dystrophy | 2022-10-14 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 46-47 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 individual(s) with Duchenne muscular dystrophy (PMID: 9800909, 15723292, 18683213, 18752307, 20944443, 22090376, 24217213). For these reasons, this variant has been classified as Pathogenic. |