Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT V560_L576DEL
KIT V560_L576DEL
Associated Disease
gastrointestinal stromal tumor
Source Database
CIViC Evidence
Description
A GIST430 patient derived cell line expressing KIT V560_L576del primary activating mutation demonstrated insensitivity to regorafenib (IC50: 191nmol/L) treatment. IC50 was determined by assessing cell viability.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4061
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/1550
Rating
2
Evidence Type
Predictive
Disease
Gastrointestinal Stromal Tumor
Evidence Direction
Supports
Drug
Regorafenib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
25239608
Drugs
Drug NameSensitivitySupported
RegorafenibSensitivitytrue