PTPN11 NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)

CI-VAR-00007999Explore in graph →p.Ile282ValNM_002834.5:c.844A>GClinVar 40525 rs397507529

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
40525	Pathogenic	criteria provided, multiple submitters, no conflicts	2	RASopathy; Noonan syndrome with multiple lentigines; Noonan syndrome; Noonan syndrome 1; Neurodevelopmental abnormality; Noonan syndrome and Noonan-related syndrome; Juvenile myelomonocytic leukemia; LEOPARD syndrome 1; Metachondromatosis; Cardiovascular phenotype; PTPN11-related disorder; Cleft lip/palate	germline	32	Jan 03, 2026	clinvar