ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.856C>T (p.Leu286Phe) (rs797044526)

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
UCLA Clinical Genomics Center, UCLA RCV000190485 SCV000206793 likely pathogenic Mental retardation, autosomal dominant 7 2014-09-15 criteria provided, single submitter clinical testing
GeneDx RCV000255647 SCV000321572 pathogenic not provided 2016-02-12 criteria provided, single submitter clinical testing The L295F pathogenic variant in the DYRK1A gene has been reported previously as an assumed de novo variant in an individual with congenital microcephaly, feeding difficulties, short stature, dysmorphic features, mild global developmental delay including severe speech delay, skeletal anomalies, blepharophimosis, abnormal gait, hand stereotypies, and duodenal atresia (Ji et al., 2015). The L295F variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The L295F variant is a conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret L295F as a pathogenic variant.

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.