ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.9275G>A (p.Trp3092Ter) (rs1565408472)

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 RCV000760598 SCV000890489 likely pathogenic not provided 2018-06-11 criteria provided, single submitter clinical testing The W3092X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The W3092X variant is not observed in large population cohorts (Lek et al., 2016). The W3092X nonsense variant in the DYNC2H1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We classify this variant as likely pathogenic.

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.