CFTR rs267606723: What Your Genotype Means
The rs267606723 variant is a rare genetic change located in the CFTR gene. It is primarily recognized for its association with cystic fibrosis carrier status and its role in determining whether a patient may respond to the medication ivacaftor.
What each genotype means
Typical CFTR function
This genotype represents the common, reference sequence for this position in the CFTR gene. It is not associated with cystic fibrosis carrier status or altered response to ivacaftor treatment.
This is the most common genotype found in the general population.
Cystic fibrosis carrier
This genotype indicates you carry one copy of the G1244E variant, which is associated with cystic fibrosis carrier status. Research suggests that individuals with this variant may show an increased response to the medication ivacaftor, as the variant can enhance channel open probability; please discuss any medication dosing or clinical implications with your healthcare provider.
This is a rare genotype found in the general population.
Cystic fibrosis carrier
This genotype indicates you carry one copy of the G1244V variant, which is associated with cystic fibrosis carrier status. As this is a rare genetic finding, you should discuss the clinical significance and any potential impact on medication response with a qualified clinician or genetic counselor.
This is a rare genotype found in the general population.
Understanding the Variant and the CFTR Gene
The rs267606723 variant is a single nucleotide polymorphism (SNP) found within the CFTR gene, which is located on chromosome 7. The CFTR gene provides instructions for creating the cystic fibrosis transmembrane conductance regulator protein. This protein functions as a channel that transports negatively charged particles called chloride ions into and out of cells. Proper movement of these ions is essential for maintaining the balance of salt and water on many cell surfaces, including those in the lungs and digestive system. When the CFTR gene contains certain variants, the resulting protein may be absent, non-functional, or less effective, which can lead to the development of cystic fibrosis. The rs267606723 variant specifically involves a change in the DNA sequence that can alter the resulting amino acid structure of the protein, potentially impacting its ability to transport chloride effectively.
Research and Clinical Significance
Research has identified rs267606723 as a clinically relevant variant because it is linked to how some individuals respond to specific medical treatments. Specifically, this variant is included in the FDA-approved drug label for ivacaftor, a medication used to treat cystic fibrosis. Ivacaftor acts as a 'potentiator,' helping to open the CFTR channel to improve chloride transport in patients who carry specific responsive variants. Clinical evidence suggests that individuals with this variant may experience therapeutic benefits from ivacaftor, as it helps restore some function to the defective protein. Because cystic fibrosis is an autosomal recessive condition, carrying one copy of a pathogenic variant typically classifies an individual as a carrier. It is important to note that the efficacy of such treatments is highly dependent on the specific combination of variants an individual carries. Patients should always consult with their healthcare provider or a specialized pharmacist to discuss how their specific genetic profile might influence treatment options.
Population Frequency and Interpretation
The rs267606723 variant is considered rare in the general population. Genetic variants in the CFTR gene are often found at different frequencies depending on ancestral background, and rare variants like this one are typically identified through specialized genetic testing rather than routine screening. Because the frequency is low, most individuals will not carry this specific change. When interpreting genetic results, it is crucial to understand that the presence of a variant does not automatically imply a diagnosis of cystic fibrosis. Instead, it indicates a specific genetic status that may have implications for carrier screening or personalized medicine. If you have received information about this variant from a genetic test, it is recommended to review the findings with a genetic counselor or a physician who can provide context based on your personal and family medical history.
What You Can Do With This Information
If you are aware that you carry the rs267606723 variant, the most important step is to engage in a conversation with a qualified healthcare professional. This information is primarily used in clinical settings to guide therapeutic decisions, particularly regarding the use of CFTR-modulating medications like ivacaftor. You cannot use this information to self-diagnose or make decisions about medication dosages. If you are planning a family, you may also wish to discuss carrier status with a genetic counselor, who can explain the implications for reproductive health and the likelihood of passing the variant to offspring. Remember that genetic testing results are only one piece of a larger health puzzle; they should always be interpreted alongside clinical symptoms, physical examinations, and other diagnostic tests performed by your medical team.
How common is this variant?
The rs267606723 variant is classified as rare in the general population, with specific frequencies varying by ancestral background.
Frequently asked questions
What does it mean to be a cystic fibrosis carrier?
Being a carrier means you have one copy of a CFTR variant that is associated with cystic fibrosis, but you typically do not show symptoms of the disease yourself. Because cystic fibrosis is recessive, a child would generally need to inherit a variant from both parents to develop the condition.
Is rs267606723 the same as G1244E?
Yes, rs267606723 is the SNP identifier for the genetic change that results in the G1244E protein variant. This specific change is recognized in clinical guidelines for ivacaftor treatment.
Can I take ivacaftor if I have this variant?
Ivacaftor is indicated for patients with specific CFTR variants, including G1244E. However, whether it is appropriate for you depends on your full genetic profile and clinical status, so you must discuss this with your doctor.
Where can I get tested for this variant?
Testing for CFTR variants is typically performed through clinical genetic laboratories ordered by a physician. If you are concerned about your carrier status, speak with your primary care provider or a genetic counselor.
Sources & further reading
Educational information only, last refreshed 10/7/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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A specific CFTR mutation recently highlighted for its potential to cause atypical or mild cystic fibrosis phenotypes in homozygous or compound heterozygous states.
This variant is a pathogenic insertion (c.1153_1154insAT) in the CFTR gene associated with cystic fibrosis.
This variant (p.Arg117His) is a well-documented pathogenic mutation associated with CFTR-related disorders, including atypical cystic fibrosis and congenital bilateral absence of the vas deferens, with severity modulated by the poly-T tract.
This variant is associated with cystic fibrosis, affecting chloride channel function in epithelial cells.
The most common mutation (DeltaF508) causing Cystic Fibrosis.
A "gating" mutation in Cystic Fibrosis that responds to specific modulators.