Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000630675 | SCV000751640 | pathogenic | Duchenne muscular dystrophy | 2022-10-17 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 44 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: 1363782, 9800909, 15723292, 18752307, 19449031, 22894145, 23299919, 24217213, 25244321, 25434822). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic. |