Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033934 | SCV001197241 | pathogenic | Duchenne muscular dystrophy | 2019-03-22 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 35-79 of the DMD gene. The 5' boundary is likely confined to intron 34. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature in individuals with DMD-related conditions. Sub-genic deletions of exons 45-46, 47 and 48 have been determined to be pathogenic (PMID: 19937601, 26081009, 28247318, 27854212). Therefore, deletions that fully encompass that region are also expected to be pathogenic. For these reasons, this variant has been classified as Pathogenic. |