ClinVar Miner

Submissions for variant NM_000777.5(CYP3A5):c.219-237A>G

gnomAD frequency: 0.72319  dbSNP: rs776746
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005370 SCV000025550 risk factor Hypertension, salt-sensitive essential, susceptibility to 2004-12-01 no assertion criteria provided literature only
Pharmacy Department, Siriraj Hospital, Mahidol University RCV002292440 SCV002500936 drug response Tacrolimus response 2022-04-15 no assertion criteria provided research The risk of immunological complications is generally highest during the early period after kidney transplantation. Adequate immunosuppression is crucial during this critical period since lower tacrolimus exposure at approximately one week post-kidney transplantation has been associated with subsequently higher rates of acute rejection [Undre 1999, Borobia 2009, O’Seaghdha 2009, Richards 2014]. The very low dosage of 60 mg/day diltiazem affects tacrolimus exposure in CYP3A5 expressers and may reduce tacrolimus dosage requirement in CYP3A5 expressers to achieve the same exposure of the drug in nonexpressers during the first week after kidney transplantation.
Department of Neurology lab, Tongji Hospital, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology RCV002227926 SCV002503584 association refractory myasthenia gravis 2022-03-23 no assertion criteria provided clinical testing Genetic polymorphisms of CYP3A5 influence the blood trough concentration and efficacy of tacrolimus for myasthenia gravis patients. CYP3A5 rs776746 were predictive factors for refractory myasthenia gravis.
Pharmacy Practice Department, Chulalongkorn University RCV002292440 SCV002506611 drug response Tacrolimus response 2021-12-31 no assertion criteria provided research Fluctuation of tacrolimus exposure in an individual transplant recipient has been recognized as a tool for identifying patients at risk of poor outcomes (Shuker 2016, Gonzales 2020). No evidence of impact of the CYP3A5 genetic polymorphisms on tacrolimus intra-patient variability of dose-adjusted trough concentrations during 6 to 12 months after kidney transplantation was determined. However, significant influence of the polymorphisms on tacrolimus exposure was found when comparing CYP3A5 expressers with nonexpressers at months 6, 9, and 12 after transplantation, with large effect.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.