依伐卡托,临床注释-2,变异和临床注释数据

依伐卡托

临床注释ID

1449191722

药物名称(英)

ivacaftor

变异单倍型

rs397508513

基因

CFTR

证据级别

1A

水平覆盖

水平修饰符

Rare Variant; Tier 1 VIP

表现型类别(英)

Efficacy

表现型类别

功效

分数

200

PMID计数

1

计数的证据

3

表现型

囊性纤维化

表现型(英)

Cystic Fibrosis

最新日期

2021/3/24 0:00:00

URL

https://www.pharmgkb.org/clinicalAnnotation/1449191722

专业人口(英)

专业人口

临床等位基因

id	等位基因	注释文本
669	CC	Patients with the rs397508513 CC genotype (two copies of the CFTR K1060T variant) and cystic fibrosis may respond to ivacaftor treatment. FDA-approved drug labeling information and CPIC guidelines indicate use of ivacaftor in cystic fibrosis patients with at least one copy of a list of 33 CFTR genetic variants, including K1060T. Other genetic and clinical factors may also influence response to ivacaftor.
668	AC	Patients with the rs397508513 AC genotype (one copy of the CFTR K1060T variant) and cystic fibrosis may respond to ivacaftor treatment. FDA-approved drug labeling information and CPIC guidelines indicate use of ivacaftor in cystic fibrosis patients with at least one copy of a list of 33 CFTR genetic variants, including K1060T. Other genetic and clinical factors may also influence response to ivacaftor.
667	AA	Patients with the rs397508513 AA genotype (do not have a copy of the CFTR K1060T variant) and cystic fibrosis have an unknown response to ivacaftor treatment, as response may depend on the presence of other CFTR variants. FDA-approved drug labeling information and CPIC guidelines indicate use of ivacaftor in cystic fibrosis patients with at least one copy of a list of 33 CFTR genetic variants, including K1060T. Other genetic and clinical factors may also influence response to ivacaftor.

临床证据

id	证据的ID	总结
1061	1449191029	Allele C is associated with activity of CFTR when treated with ivacaftor in FRT cell lines.
1060	PA166104890	Annotation of FDA Label for ivacaftor and CFTR
1059	PA166114461	Annotation of CPIC Guideline for ivacaftor and CFTR

临床病史

id	类型	评论
906	Update	CA score added as part of scoring system release. LOE assigned following curator review.
905	Update	Added rsID to phenotype descriptions
904	Update	Attached CPIC guideline and FDA label for ivacaftor.
903	Update	Added reason for override.
902	Create	Variant is approved by the FDA for treatment and is in the CPIC CFTR/ivacaftor guideline so LOE=1A

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