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|Gene Variant Descriptions||IDH1 S280F does not lie within any known functional domains of the Idh1 protein (UniProt.org). S280F has been associated with acquired resistance to IDH inhibitors when occurred in cis with IDH1 R132C in a patient (PMID: 29950729), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Mar 2020).|
|Associated Drug Resistance||Y|
|Transcript||gDNA||cDNA||Protein||Source Database||Genome Build|
|Molecular Profile||Indication/Tumor Type||Response Type||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|IDH1 R132C IDH1 S280F||acute myeloid leukemia||predicted - resistant||Ivosidenib||Case Reports/Case Series||Actionable||In a clinical study, IDH1 S280F was identified as an acquired mutation in cis with the original IDH1 R132C in a patient with acute myeloid leukemia (AML), who developed resistance to Tibsovo (ivosidenib) after initial response (PMID: 29950729).||29950729|