KIT D816H

CI-VAR-00000560Explore in graph →NP_000213.1:p.Asp816HisNM_000222.2:c.2446G>CClinVar 13863 CIViC 983 rs121913506

Curated evidence

Evidence by cancer (7 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–7 of 7 evidence items across 3 cancer contexts on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Acute Myeloid Leukemia1
KIT D816H	Imatinib Mesylate	Predictive	D	Supports Resistance	3	submitted	EID6957 whereas cells from a patient with t(8;21) and D816H type mC-KIT were resistant to Gleevec but sensitive to Ara-C (Fig. 4E). PMID 15650049 · Wang et al., 2005 · Open in CIViC	civic
Chronic Myeloid Leukemia, BCR-ABL1 Positive2
KIT D816H	Bosutinib	Predictive	D	Supports Sensitivity Response	—	submitted	EID4153 In an in vitro study, the recombinant KIT D816H mutation kinase was associated with increased sensitivity to bosutinib treatment (IC50: 32nM), as compared to wild-type KIT (IC50: 6313 nM). Sensitivit… (full text at CIViC) PMID 19039322 · Remsing Rix et al., 2009 ·

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
13863	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Germ cell tumor of testis; Dysgerminoma	germline/somatic	4	Mar 29, 2017	clinvar

Gastrointestinal Stromal Tumor4
KIT D816H	Imatinib	Predictive	C	Supports Resistance	3	accepted	EID2923 147 patients with advanced, unresectable GISTs were enrolled onto a randomized, phase II clinical study of imatinib (CSTI571-B2222). Specimens from 43 pretreatment and/or imatinib-resistant tumors wer… (full text at CIViC) PMID 16954519 · Heinrich et al., 2006 · Open in CIViC	civic
KIT D816H	Ponatinib	Predictive	D	Supports Sensitivity Response	4	submitted	EID7409 Ponatinib possesses potent activity against D816H KIT mutant in preclinical experiments. PMID 25239608 · Garner et al., 2014 · Open in CIViC	civic
KIT D816H	Regorafenib	Predictive	D	Supports Resistance	3	submitted	EID4152 In an in vitro study, Ba/F3 cell lines expressing different KIT primary mutations (known to confer sensitivity to regorafenib) and KIT D816H secondary mutation, KIT D816H was associated with decreased… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC	civic
KIT D816H	Sunitinib	Predictive	D	Supports Sensitivity Response	—	submitted	EID4151 In an in vitro study, a 32D cell line expressing KIT D816H mutation (overexpression) demonstrated sensitivity to sunitinib treatment (IC50: 17.5nM) similar to 32D cells expressing KIT wild-type (overe… (full text at CIViC) PMID 24205792 · Zhao et al., 2014 · Open in CIViC	civic