ClinVar Miner

Submissions for variant NM_003239.5(TGFB3):c.106A>T (p.Lys36Ter)

dbSNP: rs1555361451
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
GeneDx RCV000579262 SCV000681070 pathogenic not provided 2017-11-17 criteria provided, single submitter clinical testing The K36X pathogenic variant in the TGFB3 gene has not been reported as a pathogenic or benign to our knowledge. This variant is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other loss of function variants in the TGFB3 gene have been reported in Human Gene Mutation Database in association with TGFB3-related disorders (Stenson et al., 2014). Furthermore, the K36X variant is not observed in large population cohorts (Lek et al., 2016).

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.