ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2969del (p.Thr990fs)

dbSNP: rs1064793733
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 RCV000481864 SCV000566896 pathogenic not provided 2015-07-18 criteria provided, single submitter clinical testing The c.2969delC deletion in the CEP290 gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. The c.2969delC deletion is predictedto cause loss of normal protein function either through protein truncation or nonsense-mediated mRNAdecay. Protein truncating variants downstream of this deletion have been reported in the Human GeneMutation Database in association with CEP290-related disorders (Stenson et al., 2014), supporting thepathogenicity of more upstream truncating variants. The c.2969delC variant was not observed inapproximately 5900 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations. We interpretc.2969delC 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.