ClinVar Miner

Submissions for variant UGT1A1*28 (rs3064744)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000013064 SCV000597831 other Gilbert's syndrome 2016-02-10 no assertion criteria provided clinical testing
Medical Genetics Summaries RCV000664404 SCV000788336 drug response Irinotecan response 2018-04-04 criteria provided, single submitter curation The risk of irinotecan toxicity increases with genetic variants associated with reduced UGT enzyme activity, such as UGT1A1*28. The presence of this variant results in reduced excretion of irinotecan metabolites, which leads to increased active irinotecan metabolites in the blood. Homozygous individuals (UGT1A1 *28/*28) are more likely to develop neutropenia following irinotecan therapy
OMIM RCV000013064 SCV000033310 affects Gilbert's syndrome 2009-04-01 no assertion criteria provided literature only
OMIM RCV000013065 SCV000033311 pathogenic Crigler-Najjar syndrome, type II 2009-04-01 no assertion criteria provided literature only
OMIM RCV000022808 SCV000044097 pathogenic Lucey-Driscoll syndrome 2009-04-01 no assertion criteria provided literature only
OMIM RCV000022809 SCV000044098 association Bilirubin, serum level of, quantitative trait locus 1 2009-04-01 no assertion criteria provided literature only
PreventionGenetics RCV000249621 SCV000304404 benign not specified criteria provided, single submitter clinical testing

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