ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.910C>T (p.Gln304Ter)

dbSNP: rs1555984433
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000677426 SCV001591383 pathogenic DYRK1A-related intellectual disability syndrome 2020-01-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln313*) in the DYRK1A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DYRK1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 559653). Loss-of-function variants in DYRK1A are known to be pathogenic (PMID: 25944381). For these reasons, this variant has been classified as Pathogenic.
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000677426 SCV000803733 pathogenic DYRK1A-related intellectual disability syndrome 2018-05-30 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.