ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.638-2A>G

dbSNP: rs1057518474
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
GeneDx RCV000413494 SCV000492145 pathogenic not provided 2018-10-03 criteria provided, single submitter clinical testing The c.665-2A>G variant in the DYRK1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 5. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.665-2A>G variant is not observed in large population cohorts (Lek et al., 2016). We now interpret c.665-2A>G as a pathogenic variant
Diagnostic Laboratory, Strasbourg University Hospital RCV001507309 SCV001712086 pathogenic Intellectual disability 2021-06-07 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.