ClinVar Miner

Submissions for variant NM_207037.2(TCF12):c.812C>A (p.Ser271Ter)

dbSNP: rs554037047
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 RCV000578877 SCV000680771 likely pathogenic not provided 2017-11-13 criteria provided, single submitter clinical testing The S271X variant in the TCF12 gene has been reported previously as heterozygous in a female with right coronal craniosynostosis with no neurodevelopmental delays (Sharma et al., 2013). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The S271X variant is not observed in large population cohorts (Lek et al., 2016). We interpret S271X as a likely pathogenic variant,
Institute of Human Genetics, University of Leipzig Medical Center RCV002286413 SCV002576448 pathogenic TCF12-related craniosynostosis 2022-10-12 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS4_SUP,PM2_SUP

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.