PTPN11 NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)

CI-VAR-00008022Explore in graph →p.Met504ValNM_002834.5:c.1510A>GClinVar 40562 rs397507547

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
40562	Pathogenic	reviewed by expert panel	3	RASopathy; Noonan syndrome; Noonan syndrome 1; Juvenile myelomonocytic leukemia; LEOPARD syndrome 1; Metachondromatosis; Cardiovascular phenotype; Male infertility with azoospermia or oligozoospermia due to single gene mutation; PTPN11-related disorder	germline	39	Apr 03, 2017	clinvar