ABCA4 rs61752479: Understanding the p.Gly1961Glu Variant
The rs61752479 variant in the ABCA4 gene is a missense mutation that results in the substitution of glycine with glutamic acid at position 1961 (p.Gly1961Glu). This genetic change is associated with Stargardt disease, an inherited condition that causes progressive vision loss due to macular degeneration.
What each genotype means
Typical ABCA4 function
This genotype represents the common, wild-type sequence for this position in the ABCA4 gene. Individuals with this profile do not carry the specific p.Gly1961Glu variant associated with Stargardt disease.
This is the most common genotype, found in the vast majority of the global population.
Carrier of ABCA4 variant
This genotype indicates you carry one copy of the p.Gly1961Glu variant. Because Stargardt disease is typically inherited in an autosomal recessive pattern, carrying a single copy is generally not sufficient to cause the condition, though clinical outcomes can depend on the presence of other variants in the ABCA4 gene.
Carried by approximately 1 in 100 people of European ancestry, though frequencies vary by population.
Increased risk for maculopathy
This genotype indicates you carry two copies of the p.Gly1961Glu variant. Research suggests this is associated with a milder, slowly progressing form of retinal disease, such as bull’s eye maculopathy, compared to other severe ABCA4 mutations. Please discuss these findings with an ophthalmologist or genetic counselor to understand your specific clinical risk.
This genotype is rare in the general population, occurring at a frequency consistent with the variant's minor allele frequency of approximately 0.5% in European populations.
What is rs61752479?
The variant rs61752479, often referred to in clinical literature as c.5882G>A or p.Gly1961Glu, is a specific change in the DNA sequence of the ABCA4 gene. In genetics, a missense variant occurs when a single nucleotide change leads to the replacement of one amino acid with another in the resulting protein. In this case, the amino acid glycine is replaced by glutamic acid at position 1961 of the ABCA4 protein. This alteration is located within a critical functional domain of the protein, which is essential for its normal activity in the eye. Because this change can disrupt the protein's ability to perform its designated tasks, it has been extensively studied in the context of inherited retinal disorders. Researchers identify this variant by its unique rsID, which serves as a standardized label for tracking specific genetic markers across different scientific databases and clinical studies.
The Role of the ABCA4 Gene
The ABCA4 gene provides instructions for making a protein known as the rim protein, which is primarily found in the photoreceptor cells of the retina. These cells are responsible for converting light into electrical signals that the brain interprets as vision. The ABCA4 protein acts as a transporter, helping to clear out toxic byproducts that accumulate in these cells during the visual cycle. When the ABCA4 protein is dysfunctional, these byproducts can build up, leading to the formation of deposits called lipofuscin. The accumulation of lipofuscin is toxic to the retinal pigment epithelium and the photoreceptor cells themselves, eventually causing them to die. This process is the underlying mechanism for several retinal conditions, most notably Stargardt disease, which is characterized by the gradual loss of central vision and the appearance of yellow-white flecks in the retina.
Research and Clinical Associations
Scientific research has established a strong link between the p.Gly1961Glu variant and Stargardt disease. Studies have shown that this specific mutation results in reduced transport activity of the ABCA4 protein compared to the wild-type version. While it is considered a pathogenic variant, clinical evidence suggests that it may be associated with a milder or later-onset form of the disease when present in a homozygous state. Because Stargardt disease is typically inherited in an autosomal recessive pattern, individuals usually need to inherit two copies of a pathogenic variant—or one copy of this variant paired with another pathogenic mutation—to manifest the condition. It is important to note that the severity and age of onset can vary significantly between individuals, even those with the same genotype, due to the influence of other genetic and environmental factors. Clinical interpretation of this variant remains a focus of ongoing research in ophthalmology and genetics.
Population Frequency
The rs61752479 variant is relatively rare in the general population. Current data indicates a minor allele frequency (MAF) of approximately 0.005 in European populations. This means that the variant is not commonly found in the general public, which is consistent with its role in rare, inherited retinal disorders. Because the frequency is low, the likelihood of an individual carrying two copies of this specific variant is quite small. Genetic studies often emphasize that the prevalence of specific ABCA4 variants can differ significantly across various ancestral groups. Researchers continue to collect data from diverse populations to better understand how the distribution of this variant influences the global incidence of Stargardt disease. If you have concerns about your genetic risk for retinal conditions, it is recommended to consult with a genetic counselor or an eye specialist who can provide context based on your personal and family medical history.
What You Can and Cannot Do
Understanding your genetic status regarding rs61752479 can provide insights into your biological makeup, but it is not a substitute for a clinical diagnosis. If you have received results indicating you carry this variant, it does not automatically mean you will develop Stargardt disease, as the condition often requires complex inheritance patterns. You cannot use this information to self-diagnose or predict the exact progression of any potential vision issues. Instead, this information should be used to facilitate a conversation with a healthcare professional, such as an ophthalmologist or a clinical geneticist. They can perform comprehensive eye exams and provide appropriate clinical testing to assess your retinal health. Always rely on professional medical advice for any health-related decisions, and avoid making changes to your lifestyle or medical care based solely on raw genetic data without expert guidance.
How common is this variant?
The rs61752479 variant is rare, with a minor allele frequency of approximately 0.005 in European populations.
Frequently asked questions
Is rs61752479 a diagnosis for Stargardt disease?
No, identifying this variant is not a clinical diagnosis. Stargardt disease is a complex condition, and a genetic test result must be interpreted by a medical professional in the context of a physical eye examination.
What should I do if I have the AA genotype?
If you have the AA genotype, you should schedule an appointment with an ophthalmologist or a retinal specialist. They can perform specialized testing to monitor your eye health and discuss any necessary clinical follow-up.
Can I prevent Stargardt disease if I carry this variant?
Currently, there is no known way to prevent the onset of Stargardt disease if you carry pathogenic ABCA4 variants. Research is ongoing, and you should discuss the latest clinical trials and management options with your doctor.
Does this variant affect other parts of the body?
The ABCA4 gene is primarily expressed in the retina of the eye. The clinical symptoms associated with this variant are generally limited to retinal degeneration and vision-related issues.
Sources & further reading
Educational information only, last refreshed 9/18/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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A variant in the ABCA4 gene associated with Stargardt disease.
Pathogenic missense variant in ABCA4 causing autosomal recessive Stargardt disease and cone-rod dystrophy.
Genomic variant within the ATP-binding cassette retinal transporter ABCA4 locus implicated in retinal degenerations and macular disease.
Known as the Gly1961Glu (G1961E) variant in ABCA4, a prevalent hypomorphic mutation contributing to late-onset Stargardt disease and cone-rod dystrophy.
A well-documented pathogenic missense change in ABCA4 causing autosomal recessive Stargardt disease and cone-rod dystrophy.
Pathogenic missense variant in ABCA4 (p.Leu541Pro) causing Stargardt disease and juvenile macular dystrophy.