ClinVar Miner

Submissions for variant CYP2D6*17

dbSNP: rs28371706
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734612 SCV000862766 other not provided 2018-08-06 criteria provided, single submitter clinical testing
GeneDx RCV000734612 SCV000977564 likely benign not provided 2018-04-12 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 RCV001030445 SCV001193763 drug response Deutetrabenazine response 2019-05-01 criteria provided, single submitter curation CYP2D6*17 has decreased function: individuals with one decreased function and one no function allele (e.g., *4/*17) are intermediate metabolizers; individuals with two decreased function alleles (e.g. *17/*17) 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 RCV001093718 SCV001250913 drug response Tamoxifen response 2019-05-01 criteria provided, single submitter curation CYP2D6*17 has decreased function: individuals with one decreased function and one no function allele (e.g., *4/*17) are intermediate metabolizers; individuals with two decreased function alleles (e.g. *17/*17) 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.

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