Annotation Detail

Information
Associated Genes
IDH1
Associated Variants
IDH1 p.Arg132Cys (p.R132C) ( ENST00000345146.7, ENST00000446179.5, ENST00000415913.5 )
IDH1 p.Arg132Cys (p.R132C) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 )
Associated Disease
acute myeloid leukemia
Source Database
CIViC Evidence
Description
In a clinical study of 17 relapsed or refractory AML patients harboring IDH1 mutations, these patients were associated with response to AG-120 monotherapy; 4/7 patients who achieved a response experienced complete remission.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2331
Gene URL
https://civic.genome.wustl.edu/links/genes/26
Variant URL
https://civic.genome.wustl.edu/links/variants/59
Rating
2
Evidence Type
Predictive
Disease
Acute Myeloid Leukemia
Evidence Direction
Supports
Drug
Ivosidenib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
25583779
Drugs
Drug NameSensitivitySupported
IvosidenibSensitivitytrue