ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6586C>T (p.Gln2196Ter)

dbSNP: rs1567192286
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 RCV000760343 SCV000890202 pathogenic not provided 2018-08-07 criteria provided, single submitter clinical testing The Q2196X variant in the PKD1 gene has been reported previously in multiple individuals with autosomal dominant polycystic kidney disease (Obeidova et al., 2014; Trujillano et al., 2014; Elisakova et al., 2014). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q2196X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q2196X as a pathogenic variant.
Fulgent Genetics, Fulgent Genetics RCV002500982 SCV002811632 pathogenic Polycystic kidney disease, adult type 2021-12-20 criteria provided, single submitter clinical testing
Eurofins-Biomnis RCV002500982 SCV003935102 pathogenic Polycystic kidney disease, adult type 2022-11-04 criteria provided, single submitter clinical testing

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.