Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734612 | SCV000862766 | other | not provided | 2018-08-06 | criteria provided, single submitter | clinical testing | |
Gene |
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. |