Submissions for variant CYP2C9*5

gnomAD frequency: 0.00324  dbSNP: rs28371686

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000308849	SCV000338708	other	not provided	2015-12-28	criteria provided, single submitter	clinical testing
Medical Genetics Summaries	RCV000787931	SCV000926950	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	RCV000788095	SCV000927093	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	RCV000788101	SCV000927099	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000308849	SCV001724076	benign	not provided	2020-01-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000308849	SCV002005482	likely benign	not provided	2018-08-06	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 11455026, 25087612, 19204079, 23752738)