Variant · Snv
PTPN11 NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)
CI-VAR-00006207Explore in graph →p.Ala461ThrNM_002834.5:c.1381G>AClinVar 13342 rs121918468
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
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 13342 | Pathogenic | reviewed by expert panel | 3 | Noonan syndrome with multiple lentigines; LEOPARD syndrome 1; RASopathy; Noonan syndrome 1; PTPN11-related disorder; Embryonal rhabdomyosarcoma; Diffuse midline glioma, H3 K27M-mutant; Autosomal dominant PTPN11-related disorders | germline/somatic | 16 | Sep 09, 2025 | clinvar |