ClinVar Miner

Submissions for variant NM_000771.4(CYP2C9):c.1080C>G (p.Asp360Glu) (rs28371686)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 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.
PharmGKB RCV000211141 SCV000268282 drug response warfarin response - Dosage 2017-11-06 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.

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