Variant · Snv
PTPN11 NM_002834.5(PTPN11):c.175A>G (p.Thr59Ala)
CI-VAR-00049802Explore in graph →p.Thr59AlaNM_002834.5:c.175A>GClinVar 288033 rs886043790
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.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 288033 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | RASopathy; Cardiovascular phenotype; PTPN11-related disorder; LEOPARD syndrome 1; Noonan syndrome 1; Metachondromatosis; Juvenile myelomonocytic leukemia; Autosomal dominant PTPN11-related disorders | germline | 10 | Sep 10, 2026 | clinvar |