ClinVar Miner

Submissions for variant CYP2D6*10 (rs1065852)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603460 SCV000730663 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000734607 SCV000862761 other not provided 2018-08-06 criteria provided, single submitter clinical testing
Medical Genetics Summaries RCV001030444 SCV001193762 drug response Deutetrabenazine response 2019-05-01 criteria provided, single submitter curation CYP2D6*10 has decreased function: individuals with one decreased function and one no function allele (e.g., *4/*10) are intermediate metabolizers; individuals with two decreased function alleles (e.g. *10/*10) are normal metabolizers or intermediate metabolizers (controversy remains). Therapeutic recommendations from professional societies state that the maximum dose of deutetrabenazine should not exceed 36 mg per day in individuals with 2 decreased function alleles (CYP2D6 poor metabolizers) to avoid abnormally high plasma levels due to reduced metabolic clearance.
Medical Genetics Summaries RCV001093717 SCV001250912 drug response Tamoxifen response 2019-05-01 criteria provided, single submitter curation CYP2D6*10 has decreased function: individuals with one decreased function and one no function allele (e.g., *4/*10) are intermediate metabolizers; individuals with two decreased function alleles (e.g. *10/*10) are normal metabolizers or intermediate metabolizers (controversy remains). Therapeutic recommendations from professional societies state that intermediate metabolizers may benefit less from tamoxifen therapy because they have lower concentrations of tamoxifen's major active metabolite, endoxifin, compared with normal metabolizers. For tamoxifen, CPIC prescribing recommendations for individuals with an activity score (AS) of 1.0 are allele dependent, based on the presence of the *10 allele: if a *10 allele is present, individuals are provided a 'moderate' recommendation; if *10 is NOT present, individuals are graded as 'optional' because the recommendations are primarily extrapolated from evidence generated from *10 individuals (i.e., limited data for clinical outcomes and pharmacokinetics for this group).
OMIM RCV000018389 SCV000038671 drug response Debrisoquine, poor metabolism of 2015-05-18 no assertion criteria provided literature only
Bruce Budowle Laboratory,University of North Texas Health Science Center RCV001029560 SCV001192346 drug response Tramadol response 2018-04-28 no assertion criteria provided research

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.