ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1069G>T (p.Glu357Ter)

dbSNP: rs1555985742
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
Invitae RCV000823165 SCV000964014 pathogenic DYRK1A-related intellectual disability syndrome 2018-10-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu366*) 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). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DYRK1A are known to be pathogenic (PMID: 25944381). This variant has not been reported in the literature in individuals with DYRK1A-related disease.
GeneDx RCV003128715 SCV003805895 pathogenic not provided 2022-03-22 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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.