ClinVar Miner

Submissions for variant NM_001367943.1(TCF7L2):c.1144C>T (p.Gln382Ter)

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
Duke University Health System Sequencing Clinic, Duke University Health System RCV003223494 SCV003918957 pathogenic Autism 2023-04-20 criteria provided, single submitter research
GeneDx RCV004593243 SCV005079860 pathogenic not provided 2023-12-04 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Also known c.1144C>T p.Gln382* due to alternate nomenclature; This variant is associated with the following publications: (PMID: 34003604)

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.