ClinVar Miner

Submissions for variant NM_000769.1(CYP2C19):c.636G>A (p.Trp212Ter)

gnomAD frequency: 0.00149  dbSNP: rs4986893
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Pharmacogenetics Implementation Consortium RCV000783656 SCV000922179 drug response CYP2C19: no function practice guideline curation
Eurofins Ntd Llc (ga) RCV000291495 SCV000331713 other not provided 2015-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000291495 SCV001904711 benign not provided 2018-08-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22865819, 20549256, 21855977, 22344438, 25087612, 25525159, 23874401, 7969038, 24906606)
OMIM RCV000018397 SCV000038679 drug response Mephenytoin, poor metabolism of 2009-06-01 no assertion criteria provided literature only
OMIM RCV000018398 SCV000038680 drug response Proguanil, poor metabolism of 2009-06-01 no assertion criteria provided literature only
Cardiology Department, The First Affiliated Hospital of Nanjing Medical University RCV002280093 SCV002568452 drug response Acute coronary syndrome no assertion criteria provided research
Faculty of Pharmacy, Damascus University RCV004813044 SCV005438652 drug response Clopidogrel response no assertion criteria provided research rs4986893 is a SNP in the CYP2C19 gene and is linked to poor clopidogrel metabolic activation. rs4986893 is associated with reduced enzyme activity of CYP2C19 and lower concentration of clopidogrel active metabolite.

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