Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913682
rs121913682
KIT
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.800 GeneticVariation BEFREE In summary, digital PCR-based KIT D816V mutation burden measurement in the tissue represents a novel biomarker with independent prognostic significance that can also be employed for monitoring disease progression and treatment response in systemic mastocytosis. 31018976

2020

dbSNP: rs121913682
rs121913682
KIT
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.800 GeneticVariation BEFREE While KIT D816V is commonly regarded as the driver mutation, the clinical presentation of SM is extremely varied. 30849188

2019

dbSNP: rs121913682
rs121913682
KIT
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.800 GeneticVariation BEFREE We found that in SM 60-99% of the mast cells harboured the KIT D816V mutation. 30975542

2019

dbSNP: rs121913682
rs121913682
KIT
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.800 GeneticVariation BEFREE This is typified by midostaurin, which has been approved by the US Food and Drug Administration for mutant FLT3-positive AML and for KIT D816V-positive SM. 31309543

2019

dbSNP: rs121913682
rs121913682
KIT
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.800 GeneticVariation BEFREE Inhibitory effects of midostaurin and avapritinib on myeloid progenitors derived from patients with KIT D816V positive advanced systemic mastocytosis. 30911112

2019

dbSNP: rs121913682
rs121913682
KIT
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.800 GeneticVariation BEFREE DCC-2618 is a spectrum-selective pan KIT and PDGFRA inhibitor which blocks KIT D816V and multiple other kinase targets relevant to systemic mastocytosis. 29439183

2018

dbSNP: rs121913682
rs121913682
KIT
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.800 GeneticVariation BEFREE The identification of KIT D816V mutation and the emergence of novel targeted therapies have significantly improved the diagnosis and treatment of systemic mastocytosis. 30545997

2018

dbSNP: rs121913682
rs121913682
KIT
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.800 GeneticVariation BEFREE In a phase I trial of avapritinib (formerly BLU-285), which targets D816V mutant KIT, for the treatment of advanced systemic mastocytosis, patients experienced rapid and durable disease control. 29233825

2018

dbSNP: rs121913682
rs121913682
KIT
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.800 GeneticVariation BEFREE Recent studies show that most systemic mastocytosis (SM) patients, including indolent SM (ISM) with (ISMs+) and without skin lesions (ISMs-), carry the KIT D816V mutation in PB leukocytes. 29331029

2018

dbSNP: rs121913682
rs121913682
KIT
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.800 GeneticVariation BEFREE ASqPCR for the KIT D816V mutation was a useful adjunct in helping identify those with systemic mastocytosis but not monoclonal mast cell activation syndrome. 28629749

2018

dbSNP: rs121913682
rs121913682
KIT
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.800 GeneticVariation BEFREE The clinical behavior of systemic mastocytosis (SM) is strongly associated with activating mutations in KIT (D816V in >80% of cases), with the severity of the phenotype influenced by additional somatic mutations, for example, in SRSF2, ASXL1, or RUNX1. 29341334

2018

dbSNP: rs121913682
rs121913682
KIT
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.800 GeneticVariation BEFREE This medication inhibits the notoriously resistant Kit D816V mutant and is approved for the treatment of systemic mastocytosis and is effective against tumors bearing the D816V activation/resistance mutation. 29704617

2018

dbSNP: rs121913682
rs121913682
KIT
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.800 GeneticVariation BEFREE These effects were reduced by KIT inhibition or neutralization and recapitulated by enforced expression of KIT or constitutively active D816V-KIT, a gain-of-function variant associated with SM. 30352845

2018

dbSNP: rs121913682
rs121913682
KIT
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.800 GeneticVariation BEFREE The discovery of KIT mutations as central to the pathobiology of mastocytosis has prompted development of KIT-targeted agents, including imatinib and midostaurin (approved medications for patients with advanced systemic mastocytosis), and drugs in development, like KIT D816V-specific inhibitor avapritinib. 30007460

2018

dbSNP: rs121913682
rs121913682
KIT
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.800 GeneticVariation BEFREE This prospective study demonstrates that a D816V-positive result in a screening blood sample identifies SM among patients with hymenoptera venom-induced anaphylaxis in whom the diagnosis would most probably have been missed, with potential severe implications. 28432683

2017

dbSNP: rs121913682
rs121913682
KIT
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.800 GeneticVariation BEFREE Patients with systemic mastocytosis (SM), whose MCs frequently arbor the activating D816V <i>KIT</i> mutation, may have indolent to aggressive diseases, and they may experience MC mediator related symptoms. 28439288

2017

dbSNP: rs121913682
rs121913682
KIT
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.800 GeneticVariation BEFREE In summary, we have identified CCL2 as a novel KIT D816V-dependent key regulator of vascular cell migration and angiogenesis in SM. 27856463

2017

dbSNP: rs121913682
rs121913682
KIT
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.800 GeneticVariation BEFREE In conclusion, KIT D816V mutation sensitized MC to HDACi mediated killing, and SAHA may be of value as specific treatment for SM, although the specific mechanism of action requires further investigation. 28038453

2017

dbSNP: rs121913682
rs121913682
KIT
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.800 GeneticVariation BEFREE Although hymenoptera-induced anaphylaxis is not primarily a mast cell-driven hematological disorder, the latter is present in a significant proportion of patients and has to be excluded by basal serum tryptase determination, skin inspection as well as exclusion of systemic mastocytosis by D816V mutation analysis in peripheral blood and/or bone marrow examination in selected patients. 28796123

2017

dbSNP: rs121913682
rs121913682
KIT
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.800 GeneticVariation BEFREE Here we investigated IL1β, IL6, IL13, CCL23 and clusterin plasma levels in 75 SM patients--66 indolent SM (ISM) and 9 aggressive SM--and analyzed their prognostic impact among ISM cases grouped according to the extent of hematopoietic involvement of the bone marrow cells by the KIT D816V mutation. 26153655

2016

dbSNP: rs121913682
rs121913682
KIT
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.800 GeneticVariation BEFREE Bone marrow (BM) histology/immunohistochemistry, KIT D816V mutation analysis and serum tryptase measurements are mandatory tools for diagnosis of systemic mastocytosis (SM). 26914980

2016

dbSNP: rs121913682
rs121913682
KIT
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.800 GeneticVariation BEFREE Mutations in KIT, most frequently KIT D816V, are detected in over 80% of all systemic mastocytosis patients. 27694501

2016

dbSNP: rs121913682
rs121913682
KIT
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.800 GeneticVariation BEFREE These results suggest that both methods provide clinically useful and complementary information through the identification and/or quantification of the KIT D816V mutation in peripheral blood of patients suspected of systemic mastocytosis. 26067933

2015

dbSNP: rs121913682
rs121913682
KIT
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.800 GeneticVariation BEFREE Molecular profiling of myeloid progenitor cells in multi-mutated advanced systemic mastocytosis identifies KIT D816V as a distinct and late event. 25567135

2015

dbSNP: rs121913682
rs121913682
KIT
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.800 GeneticVariation BEFREE Patients with Systemic Mastocytosis (SM) need a highly sensitive diagnostic test for D816V detection of the KIT receptor gene. 25582384

2015