ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1357dup (p.Tyr453fs)

dbSNP: rs1131691661
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493767 SCV000582588 pathogenic not provided 2015-10-29 criteria provided, single submitter clinical testing The c.1384dupT duplication in the DYRK1A gene has not been reported previously as a pathogenic variantnor as a benign variant, to our knowledge. The c.1384dupT variant causes a frameshift starting with codon Tyrosine462, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 2 of the newreading frame, denoted p.Tyr462LeufsX2. This variant is predicted to cause loss of normal protein function eitherthrough protein truncation or nonsense-mediated mRNA decay. The c.1384dupT variant was not observed inapproximately 6,500 individuals of European and African American ancestry in the NHLBI Exome SequencingProject, indicating it is not a common benign variant in these populations. We interpret c.1384dupT as a pathogenicvariant.

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.