ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1136dup (p.Leu379fs)

dbSNP: rs1057519592
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000417112 SCV000494647 likely pathogenic Pitt-Hopkins syndrome 2015-10-23 criteria provided, single submitter clinical testing The patient has a development delay, dysmorphic features and bilateral cryptorchidism, features consistent with Pitt-Hopkins syndrome. This present variant, which is predicted to generate a truncated non-functional TCF4 protein, has not yet been reported, but it is widely accepted that loss of function mutations in the TCF4 gene cause Pitt-Hopkins syndrome.

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.