ClinVar Miner

Submissions for variant NM_001386298.1(CIC):c.3784C>T (p.Arg1262Ter)

dbSNP: rs1135401823
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
GeneDx RCV000524078 SCV000620160 pathogenic not provided 2017-08-21 criteria provided, single submitter clinical testing The R353X variant in the CIC gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R353X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R353X as a pathogenic variant.
OMIM RCV000496553 SCV000586809 pathogenic Intellectual disability, autosomal dominant 45 2022-04-21 no assertion criteria provided literature only

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.