BRAF L597V

CI-VAR-00002371Explore in graph →NP_004324.2:p.Leu597ValNM_004333.4:c.1789C>GClinVar 13969 CIViC 585 rs121913369

Curated evidence

Evidence by cancer (1 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.

civicCuratedShowing 1–1 of 1 evidence items across 1 cancer context on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Cutaneous Melanoma1
BRAF L597V	Trametinib	Predictive	C	Supports Sensitivity Response	3	accepted	EID1463 Case report of a phase 1 study in advanced melanoma patients. 97 patients with melanoma were enrolled and treated with trametinib. One patient with a BRAF Leu597Val had a confirmed partial response wi… (full text at CIViC) PMID 22805292 · Falchook et al., 2012 · Open in CIViC	civic

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
13969	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Non-small cell lung carcinoma; Noonan syndrome; Cardio-facio-cutaneous syndrome; Noonan syndrome 7; Noonan syndrome 1; Noonan syndrome and Noonan-related syndrome; RASopathy; Cardiofaciocutaneous syndrome 1; LEOPARD syndrome 3	germline/somatic	12	Feb 05, 2025