Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000708541 | SCV000837651 | pathogenic | DYRK1A-related intellectual disability syndrome | 2021-08-12 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the DYRK1A gene has been identified. Loss-of-function variants in DYRK1A are known to be pathogenic (PMID: 25944381). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with clinical features of DYRK1A-related conditions (PMID: 21204217, 21294719). For these reasons, this variant has been classified as Pathogenic. |