Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001380327 | SCV001578330 | pathogenic | DYRK1A-related intellectual disability syndrome | 2020-06-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DYRK1A are known to be pathogenic (PMID: 25944381). This variant has not been reported in the literature in individuals with DYRK1A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys264*) in the DYRK1A gene. It is expected to result in an absent or disrupted protein product. |