MYOC rs74315360: Understanding This Glaucoma-Linked Variant
The rs74315360 variant is a specific genetic change located within the MYOC gene. It is identified in research as a pathogenic mutation strongly linked to autosomal dominant primary open-angle glaucoma, a condition characterized by elevated intraocular pressure.
What each genotype means
Typical MYOC profile
This genotype represents the common, non-pathogenic state for this specific site in the MYOC gene. It is not associated with the increased risk of primary open-angle glaucoma linked to the G allele in this context.
This is the most common genotype observed across global populations.
Increased glaucoma risk marker
Research indicates that the G allele, sometimes referred to as MYOC.mt1, is associated with higher intraocular pressure and more significant visual field damage in individuals already diagnosed with primary open-angle glaucoma. If you carry this genotype, you should discuss the implications for your eye health and treatment monitoring with your ophthalmologist.
The G allele has been observed with a frequency of approximately 17.6% in some study cohorts, though it is considered a specific marker rather than a rare pathogenic mutation.
Increased glaucoma risk marker
Carrying two copies of the G allele may be associated with challenges in managing intraocular pressure and potential for greater visual field damage in the context of primary open-angle glaucoma. You should consult with your eye care specialist to ensure your clinical management plan is appropriate for your specific risk profile.
This homozygous genotype is less common than the heterozygous state and varies significantly by ancestral background.
What is the rs74315360 Variant?
The rs74315360 variant is a single nucleotide polymorphism (SNP) located within the MYOC gene, which provides instructions for creating the myocilin protein. In the context of genetic research, this variant is categorized as a pathogenic point mutation. It is specifically studied for its role in the development of primary open-angle glaucoma (POAG), a condition where fluid drainage in the eye is impaired, leading to increased intraocular pressure. Because this variant is associated with an autosomal dominant inheritance pattern, inheriting a single copy of the variant from one parent is often sufficient to increase the risk of developing the associated eye condition. Geneticists track such variants to better understand how specific changes in the DNA sequence can disrupt normal biological processes, particularly in tissues like the trabecular meshwork of the eye.
The Role of the MYOC Gene
The MYOC gene is responsible for producing the protein myocilin. While the exact function of myocilin is still a subject of ongoing scientific investigation, it is highly expressed in the trabecular meshwork and the ciliary body of the eye. These structures are critical for regulating the pressure within the eye. Researchers believe that myocilin acts as a matricellular protein, potentially helping to maintain the structural integrity of the extracellular matrix—the lattice-like network that supports cells. When the MYOC gene contains pathogenic variants, the resulting myocilin protein may be misfolded. This misfolded protein can accumulate within cells, potentially causing stress and damaging the function of the trabecular meshwork. This disruption is thought to be a primary mechanism by which certain MYOC variants contribute to the development of glaucoma.
Research and Evidence Strength
The association between MYOC variants and glaucoma is well-documented in clinical literature, though the evidence for specific variants like rs74315360 is often categorized as limited or specific to certain clinical cohorts. Research indicates that while MYOC mutations are found in a small percentage of individuals with adult-onset primary open-angle glaucoma, they are more frequently identified in cases of juvenile open-angle glaucoma. Studies often use clinical characterization of patients to infer the pathogenicity of these variants. Because the biological mechanisms are complex, scientists continue to use models, such as CRISPR-engineered animal models, to observe how mutant myocilin interacts with other cellular components like chaperones. It is important to note that having a variant does not guarantee the development of disease, as penetrance—the proportion of people with a mutation who actually show symptoms—can vary significantly.
Population Frequency
According to data from the Genome Aggregation Database (gnomAD), the allele frequency for rs74315360 is extremely low, reported at less than 0.00001. This rarity suggests that the variant is not a common feature in the general population. Because it is so infrequent, large-scale population studies have limited data on its distribution across different ancestral groups. In clinical settings, the identification of such rare variants is typically limited to families or individuals already presenting with symptoms of early-onset or severe glaucoma. The low frequency underscores that this is not a common genetic trait but rather a specific, rare mutation that carries significant clinical implications for those who carry it.
What This Information Means for You
If you have received information about this variant, it is essential to understand that genetic data is only one piece of a larger health picture. This variant is associated with a higher risk of glaucoma, but it is not a medical diagnosis. Glaucoma is a complex, multifactorial disease influenced by both genetic and environmental factors. You cannot use this information to diagnose yourself or predict the exact timing or severity of any potential eye health issues. If you are concerned about your risk for glaucoma, the most appropriate step is to consult with an ophthalmologist or a genetic counselor. They can provide a comprehensive eye examination and discuss your personal and family medical history to determine the best course of action for your eye health. Never make changes to your healthcare or medication regimen based on genetic reports without professional medical guidance.
How common is this variant?
The rs74315360 variant is extremely rare, with a gnomAD allele frequency of less than 0.00001 across global populations.
Frequently asked questions
Is rs74315360 a diagnosis for glaucoma?
No, this variant is not a diagnosis. It is a genetic marker associated with an increased risk of developing primary open-angle glaucoma, but it does not confirm that you have or will develop the disease.
What should I do if I have this variant?
If you are aware that you carry this variant, you should schedule an appointment with an ophthalmologist. They can perform a baseline eye exam and monitor your intraocular pressure over time.
How does the MYOC gene cause glaucoma?
The MYOC gene produces the myocilin protein. Pathogenic variants can cause this protein to misfold and accumulate in the eye's drainage system, which may lead to increased pressure and glaucoma.
Is this variant common?
No, this variant is very rare. It is found in a very small fraction of the population, which is why it is not typically included in standard, broad-spectrum genetic screening.
Sources & further reading
Educational information only, last refreshed 9/22/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Encodes the classical Gln368STOP mutation in myocilin, a well-validated genetic cause of juvenile- and adult-onset primary open-angle glaucoma.
A major missense variant in the myocilin olfactomedin domain causative of juvenile- and adult-onset primary open-angle glaucoma.
Missense mutation in MYOC (p.Gln368Glu) predisposing carriers to elevated intraocular pressure and adult-onset primary open-angle glaucoma.
A pathogenic missense variant in myocilin causing trabecular meshwork disruption and juvenile-onset open-angle glaucoma.
Known as the Gln368STOP mutation in MYOC, this nonsense variant is a well-established cause of autosomal dominant juvenile- and adult-onset primary open-angle glaucoma.
A pathogenic missense variant (p.Gln368Ter) in the MYOC gene, a major genetic risk factor for primary open-angle glaucoma.