Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF p.Leu637Val (p.L637V) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Leu637Val (p.L637V) ( ENST00000646891.2, ENST00000288602.11, ENST00000496384.7, ENST00000644969.2 )
Associated Disease
skin melanoma
Source Database
CIViC Evidence
Description
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 with 60% tumour reduction and received study treatment for more than 2 years.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1463
Gene URL
https://civic.genome.wustl.edu/links/genes/5
Variant URL
https://civic.genome.wustl.edu/links/variants/585
Rating
3
Evidence Type
Predictive
Disease
Skin Melanoma
Evidence Direction
Supports
Drug
Trametinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
22805292
Drugs
Drug NameSensitivitySupported
TrametinibSensitivitytrue