ClinVar Miner

Submissions for variant NM_000106.5(CYP2D6):c.506-1G>A (rs3892097)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV000211307 SCV000268306 drug response tamoxifen response - Efficacy, Toxicity/ADR 2016-07-11 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.
PharmGKB RCV000211390 SCV000268307 drug response amitriptyline response - Dosage, Toxicity/ADR 2015-10-14 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
PharmGKB RCV000211174 SCV000268308 drug response antidepressants response - Dosage, Toxicity/ADR 2015-10-14 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
PharmGKB RCV000211293 SCV000268309 drug response clomipramine response - Dosage, Toxicity/ADR 2015-10-14 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
PharmGKB RCV000211422 SCV000268310 drug response desipramine response - Dosage, Toxicity/ADR 2015-10-14 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
PharmGKB RCV000211167 SCV000268311 drug response doxepin response - Dosage, Toxicity/ADR 2015-10-14 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
PharmGKB RCV000211292 SCV000268312 drug response imipramine response - Dosage, Toxicity/ADR 2015-10-14 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
PharmGKB RCV000211415 SCV000268313 drug response nortriptyline response - Dosage, Toxicity/ADR 2015-10-14 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
PharmGKB RCV000211232 SCV000268314 drug response trimipramine response - Dosage, Toxicity/ADR 2015-10-14 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000342450 SCV000331716 other not provided 2018-08-06 criteria provided, single submitter clinical testing
GeneDx RCV000613767 SCV000730662 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.
Medical Genetics Summaries RCV001030442 SCV001193760 drug response Deutetrabenazine response 2019-05-01 criteria provided, single submitter curation Individuals who do not have any fully functional alleles are either intermediate metabolizers (one decreased function and one no function allele, e.g., *4/*41) or poor metabolizers (2 no function alleles, e.g., *4/*4).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 RCV001093714 SCV001250909 drug response Tamoxifen response 2019-05-01 criteria provided, single submitter curation Individuals who do not have any fully functional alleles are either intermediate metabolizers (one decreased function and one no function allele, e.g., *4/*41) or poor metabolizers (2 no function alleles, e.g., *4/*4). Currently, there is no consensus on therapeutic guidelines for tamoxifen based on CYP2D6 genotype. Professional societies suggest that poor metabolizers may benefit less from tamoxifen therapy because they have lower concentrations of tamoxifen's major active metabolite, endoxifin, compared with normal metabolizers.
OMIM RCV000018385 SCV000038667 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 RCV001028774 SCV001191560 drug response Tramadol response 2018-04-28 no assertion criteria provided research

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