ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.415del (p.Leu139fs)

dbSNP: rs587784463
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
Genetic Services Laboratory, University of Chicago RCV000147722 SCV000195187 pathogenic Pitt-Hopkins syndrome 2013-02-08 criteria provided, single submitter clinical testing
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV000147722 SCV005326322 likely pathogenic Pitt-Hopkins syndrome criteria provided, single submitter clinical testing The p.Leu139Phefs*95 variant substitutes the leucine at amino acid position 139 with phenylalanine followed by a premature stop codon after 95 residues. This is predicted to result in loss-of-function of the TCF4 protein. While the p.Leu139Phefs*95 variant has not been reported in the medical literature, loss-of-function of TCF4 is a known disease mechanism for Pitt-Hopkins syndrome (MIM: 610954) (PMID: 34837432). The p.Leu139Phefs*95 variant is reported in a patient database in an individual with Pitt-Hopkins syndrome (ClinVar Variation ID: 160084). The p.Leu139Phefs*95 variant is absent from large population studies (gnomAD v2.1.1).

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.