PTPN11 NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)

CI-VAR-00006196Explore in graph →p.Thr468MetNM_002834.5:c.1403C>TClinVar 13331 rs121918457

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
13331	Pathogenic	reviewed by expert panel	3	LEOPARD syndrome 1; RASopathy; Noonan syndrome 1; Noonan syndrome; Noonan syndrome with multiple lentigines; Juvenile myelomonocytic leukemia; Metachondromatosis; PTPN11-related disorder; Hypertrophic cardiomyopathy; Noonan syndrome and Noonan-related syndrome; Cardiovascular phenotype; Autosomal dominant PTPN11-related disorders	germline	49	Apr 03, 2017	clinvar