PTPN11 NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)

CI-VAR-00008001Explore in graph →p.Phe285LeuNM_002834.5:c.853T>CClinVar 40528 rs397507531

Curated evidence

Evidence by cancer (0 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

Data not yet available

No curated evidence item references this variant yet.

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
40528	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Noonan syndrome; RASopathy; Noonan syndrome 3; Juvenile myelomonocytic leukemia; LEOPARD syndrome 1; Noonan syndrome 1; Metachondromatosis; Cardiovascular phenotype; PTPN11-related disorder; Monogenic short statue	germline	25	Dec 11, 2025	clinvar