BEST1 rs62642574: Understanding This Rare Genetic Variant
The rs62642574 variant is a rare genetic alteration located within the BEST1 gene. It is associated with a group of inherited retinal conditions known as bestrophinopathies, which can impact central vision.
What each genotype means
Typical BEST1 profile
This genotype represents the common, non-variant sequence for this position in the BEST1 gene. It is not associated with the specific retinal conditions linked to rare pathogenic variants in this gene.
This is the most common genotype found in the general population across all ancestries.
Rare variant carrier
This genotype indicates the presence of a rare missense alteration in the BEST1 gene. While BEST1 variants are linked to a spectrum of retinal disorders known as bestrophinopathies, the clinical significance of this specific variant is currently limited and requires expert clinical correlation. Please consult with an ophthalmologist or genetic counselor to discuss what this finding means for your personal health.
This genotype is very rare, with the variant allele observed at a frequency of less than 0.0001 in global population databases.
Rare variant homozygous
This genotype indicates that both copies of the BEST1 gene carry this rare missense alteration. Because mutations in BEST1 can be associated with autosomal recessive bestrophinopathy, this finding warrants a formal evaluation by a retinal specialist. Please discuss these results with your clinician to determine if further diagnostic testing or monitoring is appropriate.
This genotype is extremely rare and is not typically observed in general population cohorts.
What is the rs62642574 Variant?
The rs62642574 variant is a specific change in the DNA sequence of the BEST1 gene. In genetics, a variant like this represents a single-nucleotide change that may alter the instructions for building a protein. This particular variant is categorized as a missense alteration, meaning it results in the substitution of one amino acid for another in the final protein structure. Located on chromosome 11, the BEST1 gene provides the blueprint for a protein called bestrophin-1. Because this variant is extremely rare, it is not typically found in the general population. Researchers study such variants to understand how specific changes in the genetic code can disrupt normal biological processes, particularly those involved in maintaining the health of the retina at the back of the eye.
The Role of the BEST1 Gene
The BEST1 gene is essential for the proper function of the retinal pigment epithelium (RPE), a layer of cells that supports the light-sensing photoreceptors in the eye. The protein it encodes, bestrophin-1, acts as a specialized channel that allows chloride and bicarbonate ions to pass through cell membranes. It also plays a critical role in regulating calcium signaling within these cells. By maintaining the balance of ions and calcium, bestrophin-1 helps ensure the RPE can effectively nourish the retina and remove waste products. When the BEST1 gene is altered, the resulting protein may not function correctly, which can lead to the accumulation of fluid or debris under the retina. This disruption is the underlying cause of a spectrum of eye disorders collectively referred to as bestrophinopathies.
Research and Clinical Associations
Scientific research has linked various mutations in the BEST1 gene to five distinct retinal degenerative diseases, including Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB). The evidence for rs62642574 specifically is considered limited, meaning that while it is identified in genetic databases, its precise clinical impact and the severity of the conditions it may cause require further investigation. Studies on bestrophinopathies generally show that these conditions can present with a wide range of symptoms, from mild vision changes to more significant central visual impairment. Because the relationship between genotype and phenotype—the actual physical expression of the disease—can be complex, researchers emphasize that having a variant does not always guarantee a specific clinical outcome. Ongoing studies continue to map how different BEST1 variants influence retinal health.
Population Frequency
The rs62642574 variant is classified as very rare. According to population genetic databases like gnomAD, the minor allele frequency (MAF) is less than 0.0001. This means the variant is found in an extremely small fraction of the global population. Because it is so uncommon, it is not a variant that most individuals would encounter in routine genetic screening. Its rarity makes it challenging for researchers to gather large-scale data, which is why the evidence regarding its specific health implications remains limited. In the context of rare genetic conditions, such low frequencies are typical, as many pathogenic variants are maintained at very low levels in the gene pool.
Navigating Genetic Information
If you have received information about a rare variant like rs62642574, it is important to approach it with care. Genetic findings are complex and should never be used to self-diagnose or make medical decisions. Because the evidence for this specific variant is limited, its presence does not necessarily indicate a clinical diagnosis of a retinal disease. If you are concerned about your vision or your genetic risk, the most appropriate step is to consult with a healthcare professional, such as an ophthalmologist or a genetic counselor. They can provide context based on your personal and family medical history, perform necessary clinical examinations, and help you understand what, if any, follow-up is appropriate. Genetic information is a tool for clinical guidance, not a substitute for professional medical evaluation.
How common is this variant?
The rs62642574 variant is very rare, with a minor allele frequency (MAF) of less than 0.0001 in the gnomAD database.
Frequently asked questions
What is a bestrophinopathy?
A bestrophinopathy is a group of inherited retinal diseases caused by mutations in the BEST1 gene. These conditions affect the retinal pigment epithelium and can lead to vision loss.
Is rs62642574 a cause of blindness?
The rs62642574 variant is associated with retinal conditions that may impact vision, but the evidence is limited. It is not a definitive cause of blindness, and clinical outcomes vary significantly between individuals.
Should I get tested for BEST1 variants?
Genetic testing for BEST1 is typically only recommended by eye specialists if there is a clinical suspicion of a retinal dystrophy. You should discuss the necessity of such testing with an ophthalmologist.
Can I change my risk if I have this variant?
Genetic variants are inherited and cannot be changed. However, regular monitoring by an eye care professional can help manage the health of your retina if a condition is present.
Sources & further reading
Educational information only, last refreshed 9/28/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Encodes the Thr6Arg (T6R) missense change in Bestrophin 1 associated with autosomal dominant Best vitelliform macular dystrophy.
Pathogenic missense variant in BEST1 (p.Ala146Thr) linked to autosomal dominant Best vitelliform macular dystrophy causing progressive loss of central vision.
Missense mutation in BEST1 causing classical Best vitelliform macular dystrophy type 2.
A pathogenic missense variant (p.Tyr227Asn) in BEST1 associated with Best vitelliform macular dystrophy.
Pathogenic missense mutation (p.Arg218Cys) in bestrophin-1 causing Best vitelliform macular dystrophy with subretinal egg-yolk-like lesions.
Pathogenic missense variant (p.Thr6Arg) in BEST1 altering the bestrophin-1 channel causing autosomal dominant Best vitelliform macular dystrophy.