Variant · Snv
CBL Y371H
CI-VAR-00004804Explore in graph →CIViC 2638
Curated evidence
Evidence by cancer (2 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.
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 20543203
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Juvenile Myelomonocytic Leukemia1 | ||||||||
| CBL Y371H | (predisposing) | Predisposing | C | Supports Predisposition | 3 | accepted | EID7147Three patients displayed variable developmental conditions with predisposition to JMML. All cases included a copy neutral loss of heterozygosity of the 11q23 chromosomal region, encompassing the CBL l… (full text at CIViC) PMID 20543203 · Pérez et al., 2010 · Open in CIViC | civic |
| Unmapped disease1unmapped disease | ||||||||
| CBL Y371H | (functional) | Functional | E | Supports Loss Of Function | 3 | submitted | EID7146JMML is characterized by hypersensitivity to granulocyte-macrophage colony-stimulating factor (GM-CSF). CBL linker and RING finger mutants, such as Y371H, lead to enhanced GM-CSF signaling due to elev… (full text at CIViC) PMID 23696637 · | |
ClinVar
Clinical significance (0)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
Data not yet available