ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1630A>G (p.Thr544Ala)

gnomAD frequency: 0.00004  dbSNP: rs759183785
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000649323 SCV000771150 benign DYRK1A-related intellectual disability syndrome 2025-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311986 SCV000846981 likely benign Inborn genetic diseases 2024-03-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001584495 SCV001813175 likely benign not provided 2019-11-11 criteria provided, single submitter 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.