ClinVar Miner

Submissions for variant CYP2C9*2

gnomAD frequency: 0.08975  dbSNP: rs1799853
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723560 SCV000331315 other not provided 2015-07-09 criteria provided, single submitter clinical testing
GeneDx RCV000309101 SCV000730664 likely benign not specified 2018-03-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Medical Genetics Summaries RCV000787929 SCV000926948 drug response Flurbiprofen response 2019-02-11 criteria provided, single submitter curation The dose of flurbiprofen should be reduced in individuals with 2 decreased function alleles (CYP2C9 poor metabolizers) to avoid abnormally high plasma levels due to reduced metabolic clearance.
Medical Genetics Summaries RCV000788093 SCV000927091 drug response Lesinurad response 2019-02-11 criteria provided, single submitter curation Lesinurad should be used with caution in individuals with 2 decreased function alleles (CYP2C9 poor metabolizers) because of increased exposure and an increased risk of side effects.
Medical Genetics Summaries RCV000788099 SCV000927097 drug response Piroxicam response 2019-02-11 criteria provided, single submitter curation Individuals with 2 decreased function alleles (CYP2C9 poor metabolizers) have reduced clearance of piroxicam. Because the standard recommended dose of piroxicam may cause abnormally high plasma levels, a dose reduction should be considered for these individuals.
OMIM RCV000008920 SCV000029130 drug response Warfarin response 2018-08-09 no assertion criteria provided literature only
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001263463 SCV001441533 drug response Phenytoin response 2020-09-24 no assertion criteria provided case-control May cause toxicity/ADR and poor metabolism/PK

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.