ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.854T>A (p.Phe285Tyr) (rs121918463)

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 RCV000159051 SCV000208993 pathogenic not provided 2014-03-10 criteria provided, single submitter clinical testing The F285Y missense mutation in the PTPN11 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The Phenylalanine 285 residue is a mutation hot spot" in the PTPN11 gene and many missense mutations (F285I, F285C, F285L, F285S) have been reported at this residue. The F285Y mutation lies in the highly conserved PTP domain of the gene. The F285Y mutation was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The variant is found in NOONAN panel(s)."

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.