Gene: CFTR ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE The present study characterized in a sample of patients with an established clinical diagnosis of CF (asthma, repeated bronchopneumonia, disorders of nutritional status, etc.) the most frequent mutation (deltaF508) in the North region of Brazil and is also the first report of the G551D mutation. 15665983

2005
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE Although ivacaftor is currently only licensed for use in approximately 5% of the CF population (those who have at least one Gly551Asp mutation), the developmental pathway established by ivacaftor paves the way for other CFTR modulators that may benefit many more patients. 24039402

2013
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE We also showed a similar pharmacological effect in nasal cells freshly isolated from a delF508/G551D CF patient. 11739639

2001
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE For adults and children aged 6 years and older with CF due to gating mutations other than G551D or R117H, the guideline panel made a conditional recommendation for treatment with IVA. 29342367

2018
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE We conducted a longitudinal cohort study in 2012-2013 in G551D CF patients age 6 and older with no prior exposure to ivacaftor. 24927234

2014
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE The G551D CFTR mutation is the third most common CF disease-causing mutation, in which the CFTR protein localizes to the epithelial cell membrane but has defective gating. 23616952

2013
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE Changes in Airway Microbiome and Inflammation with Ivacaftor Treatment in Patients with Cystic Fibrosis and the G551D Mutation. 31604026

2020
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE Ivacaftor (VX-770) is a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator that was approved in the United States for the treatment of cystic fibrosis (CF) in patients ≥ 6 years of age who have a G551D mutation; however, the most prevalent disease-causing CFTR mutation, F508del, causes a different functional defect. 22383668

2012
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE Ivacaftor corrects the cystic fibrosis transmembrane conductance regulator (CFTR) gating defect associated with G551D mutation and is quickly becoming an important treatment in patients with cystic fibrosis (CF) due to this genetic mutation. 25049054

2015
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE Effect of ivacaftor in patients with advanced cystic fibrosis and a G551D-CFTR mutation: Safety and efficacy in an expanded access program in the United States. 25682022

2016
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE The most common mutations in CFTR are a deletion of a phenylalanine residue at position 508 (ΔF508-CFTR, 70-80 % of CF phenotypes) and a Gly551Asp substitution (G551D-CFTR, 4-5 % of alleles), which lead to decreased or almost abolished Cl(-) channel function, respectively. 26874684

2016
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE The potentiator Kalydeco™ (also known as Ivacaftor or VX-770), developed by Vertex Pharmaceuticals, has been recently approved by the US FDA and the European Medicines Agency (EMA) for the treatment of CF patients carrying at least one CFTR allele with the p.Gly551Asp mutation (2-5 % of all patients). 23757197

2013
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE Clinical trials have shown an improvement in lung function, weight and CF pulmonary exacerbation in adults with CFTR-G551D</span> leading to the approval of ivacaftor as a novel CF therapy [1]. 25698453

2015
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE The G551D mutation is reasonably common in the CF patient population and produces a CFTR protein that localizes normally to the plasma membrane, but fails to open in response to cellular cues. 24004658

2013
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE We randomly assigned 39 adults with cystic fibrosis and at least one G551D-CFTR allele to receive oral VX-770 every 12 hours at a dose of 25, 75, or 150 mg or placebo for 14 days (in part 1 of the study) or VX-770 every 12 hours at a dose of 150 or 250 mg or placebo for 28 days (in part 2 of the study). 21083385

2010
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE VX-770 also increased Cl(-) secretion in cultured human CF bronchial epithelia (HBE) carrying the G551D gating mutation on one allele and the F508del processing mutation on the other allele by approximately 10-fold, to approximately 50% of that observed in HBE isolated from individuals without CF. 19846789

2009
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE Retrospective observational study of French patients with cystic fibrosis and a Gly551Asp-CFTR mutation after 1 and 2years of treatment with ivacaftor in a real-world setting. 28711222

2018
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE Previous work indicates that ivacaftor improves cystic fibrosis transmembrane conductance regulator (CFTR) activity and lung function in people with cystic fibrosis and G551D-CFTR mutations but does not reduce density of bacteria or markers of inflammation in the airway. 28222269

2017
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE Recovery of lung function following a pulmonary exacerbation in patients with cystic fibrosis and the G551D-CFTR mutation treated with ivacaftor. 28651844

2018
dbSNP: rs78655421
rs78655421
CFTR
0.900 GeneticVariation BEFREE The severity of the CF phenotype is partly dependent on the IVS8 background on which R117H occurs; thus, it is important to be able to test clinically for both these variants. 11070158

2000
dbSNP: rs78655421
rs78655421
CFTR
0.900 GeneticVariation BEFREE In 2014, ivacaftor was approved in the United States as a treatment for CF subjects aged greater than 6 years old with a copy of R117H-CFTR. 25698453

2015
dbSNP: rs78655421
rs78655421
CFTR
0.900 GeneticVariation BEFREE Only three CBAVD patients were found with more than one CFTR mutation (delta F508/L206W, delta F508/R74W + D1270N, R117H/712-1G --> T), highlighting L206W, R74W/D1270N, and R117H as benign CF mutations. 7532150

1995
dbSNP: rs78655421
rs78655421
CFTR
0.900 GeneticVariation BEFREE This result is thus consistent with the hypothesis that PI and PS in CF are predisposed by the genotype at the CFTR locus; the PS phenotype occurs in patients who have one or two mild CFTR mutations, such as R117H, R334W, R347P, A455E, and P574H, whereas the PI phenotype occurs in patients with two severe alleles, such as delta F508, delta I507, Q493X, G542X, R553X, W1282X, 621 + 1G----T, 1717-1G----A, 556delA, 3659delC, I148T, G480C, V520F, G551D, and R560T. 1376016

1992
dbSNP: rs78655421
rs78655421
CFTR
0.900 GeneticVariation BEFREE Patients with CBAVD carrying p.Arg117His and a severe CF mutation should benefit from a clinical evaluation and follow-up. 23378603

2013
dbSNP: rs78655421
rs78655421
CFTR
0.900 GeneticVariation BEFREE Cystic fibrosis mutational analysis identified seven patients who had the R117H mutation. 15997883

2005