ClinVar Miner

Submissions for variant NM_000771.3(CYP2C9):c.430C>T (p.Arg144Cys) (rs1799853)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV000211223 SCV000268208 drug response warfarin response - Dosage 2018-04-06 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
PharmGKB RCV000660780 SCV000783019 drug response warfarin response - Efficacy, Toxicity/ADR 2018-04-06 reviewed by expert panel curation PharmGKB Level of Evidence 2A: Annotation for a variant-drug combination that qualifies for level 2B where the variant is within a VIP (Very Important Pharmacogene) as defined by PharmGKB. The variants in level 2A are in known pharmacogenes, so functional significance is more likely.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 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

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