PTPN11 NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)

CI-VAR-00008025Explore in graph →p.Thr553MetNM_002834.5:c.1658C>TClinVar 40570 rs148176616

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
40570	Benign	reviewed by expert panel	3	RASopathy; Noonan syndrome; Cardiovascular phenotype; Juvenile myelomonocytic leukemia; LEOPARD syndrome 1; Noonan syndrome 1; Metachondromatosis; Cardiomyopathy; Primary dilated cardiomyopathy; Noonan syndrome and Noonan-related syndrome; PTPN11-related disorder; Familial thoracic aortic aneurysm and aortic dissection	germline	26	Sep 17, 2024	clinvar