ClinVar Miner

Submissions for variant NM_018297.4(NGLY1):c.622C>T (p.Gln208Ter) (rs200561967)

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
GeneDx RCV001007960 SCV001167686 pathogenic not provided 2019-03-20 criteria provided, single submitter clinical testing The Q208X nonsense variant in the NGLY1 gene has been reported previously in two siblings with features of a NGLY1-related disorder who also had a second variant on the opposite allele (He et al., 2015). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret Q208X as a pathogenic variant.
Medical Biochemical Genetics, National Human Genome institute, NIH,National Institutes of Health RCV000496134 SCV000259181 pathogenic Congenital disorder of deglycosylation 2016-01-07 no assertion criteria provided clinical testing
GeneReviews RCV000496134 SCV000891723 pathogenic Congenital disorder of deglycosylation 2017-08-25 no assertion criteria provided literature only Mild impairment

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.