Variant · Snv
BRAF L597Q
CI-VAR-00002368Explore in graph →NP_004324.2:p.Leu597GlnNM_004333.4:c.1790T>AClinVar 76687 CIViC 583 rs121913366
Curated evidence
Evidence by cancer (3 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
- 24933606
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Cutaneous Melanoma2 | ||||||||
| BRAF L597Q | Trametinib | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID4905Case study report including one patient with L597Q mutation-positive metastatic melanoma (M1b disease) treated with the MEK inhibitor trametinib. The L597Q patient achieved a RECIST partial response a… (full text at CIViC) PMID 24933606 · Bowyer et al., 2014 · Open in CIViC | civic |
| BRAF L597Q | Trametinib + VemurafenibSubstitutes | Predictive | D | Supports Sensitivity Response | 2 | accepted | EID1461Preclinical study in 293H cell line. Ectopic expression of V600E, L597R/Q/S, and K601E mutants elevated phospho-MEK and ERK levels. Vemurafenib treatment of all of the BRAF mutant–expressing cells led… (full text at CIViC) PMID 22798288 · Dahlman et al., 2012 · | |
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