ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.627del (p.Lys208_Trp209insTer)

dbSNP: rs1085307743
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 RCV000488943 SCV000577200 pathogenic not provided 2017-04-07 criteria provided, single submitter clinical testing The W209X variant in the CAMTA1 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 W209X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret W209X as a pathogenic variant.
OMIM RCV001839007 SCV002098947 pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2022-02-24 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.