Submissions for variant CYP2C9*2

gnomAD frequency: 0.08975  dbSNP: rs1799853

Total submissions: 8

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
Faculty of Pharmacy, Damascus University	RCV000008920	SCV005397926	drug response	Warfarin response		no assertion criteria provided	research	rs1799853 is a SNP in the CYP2C9 gene and is linked to poor warfarin metabolism and risk of GI bleeding with warfarin, rs1799853 is associated with reduced enzyme activity and lower clearance rates of warfarin leading to higher rates of warfarin concentration