Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT p.Asp817Val (p.D817V) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
KIT p.Asp817Val (p.D817V) ( ENST00000686011.1, ENST00000687109.1, ENST00000288135.6, ENST00000412167.7, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
Associated Disease
systemic mastocytosis
Source Database
CIViC Evidence
Description
In a phase II clinical trial, 60% of patients (N=89) with advanced systemic mastocytosis responded to treatment with midostaurin.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1725
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/65
Rating
4
Evidence Type
Predictive
Disease
Systemic Mastocytosis
Evidence Direction
Supports
Drug
Midostaurin
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
27355533
Drugs
Drug NameSensitivitySupported
MidostaurinSensitivitytrue