ALDH7A1 rs1064794053: Understanding Carrier Status
The rs1064794053 variant is a specific genetic change located within the ALDH7A1 gene. It is recognized in clinical databases as being associated with carrier status for pyridoxine-dependent epilepsy, a rare inherited metabolic disorder.
What each genotype means
Typical ALDH7A1 genotype
This genotype represents the most common sequence found in the general population for this location in the ALDH7A1 gene. It is not associated with the carrier status for pyridoxine-dependent epilepsy described in clinical literature. No specific medical action is indicated by this result.
This is the most common genotype observed across all global populations.
Potential carrier status
This genotype indicates that you carry one copy of the variant associated with pyridoxine-dependent epilepsy. As this condition is inherited in an autosomal recessive manner, carriers typically do not exhibit symptoms of the disorder. You may wish to discuss this finding with a genetic counselor or clinician to understand the implications for family planning.
This genotype is rare, occurring at a low frequency in the general population.
Possible clinical association
This genotype indicates that both copies of the ALDH7A1 gene contain this variant. In the context of pyridoxine-dependent epilepsy, which is an autosomal recessive condition, individuals with two copies of a pathogenic variant may be at risk for the disorder. Please consult with a medical professional or a clinical geneticist to interpret these results in the context of your personal health history.
This genotype is extremely rare in the general population.
What is rs1064794053?
The identifier rs1064794053 refers to a single nucleotide polymorphism (SNP) located on chromosome 5. In the context of human genetics, a SNP represents a variation at a single position in the DNA sequence. This specific variant is situated within the ALDH7A1 gene, which provides instructions for producing an enzyme called alpha-aminoadipic semialdehyde dehydrogenase. Genetic variants like rs1064794053 are identified by researchers through large-scale sequencing efforts and are cataloged in public databases to help scientists understand how specific DNA changes might influence biological function or disease risk. Because this variant is classified as rare, it is not found in the majority of the population, and its presence is typically investigated in the context of clinical genetic testing for specific hereditary conditions.
The Role of the ALDH7A1 Gene
The ALDH7A1 gene is essential for the proper breakdown of lysine, an amino acid found in many proteins. The enzyme produced by this gene, often referred to as antiquitin, plays a critical role in the lysine catabolic pathway. When this gene functions correctly, it prevents the accumulation of toxic metabolic byproducts. However, when both copies of the ALDH7A1 gene contain pathogenic variants, the resulting enzyme deficiency can lead to pyridoxine-dependent epilepsy (PDE). This condition is characterized by seizures that are resistant to standard anti-seizure medications but often respond to high doses of pyridoxine, a form of vitamin B6. Understanding the function of this gene is vital for clinicians who manage patients with intractable neonatal seizures or other neurological symptoms linked to metabolic dysfunction.
Research and Evidence Strength
The association between ALDH7A1 variants and pyridoxine-dependent epilepsy is well-established in medical literature. PDE is an autosomal recessive disorder, meaning an individual must inherit two copies of a pathogenic variant—one from each parent—to manifest the condition. The evidence strength for rs1064794053 as a marker for carrier status is considered moderate, based on its inclusion in clinical databases that track variants linked to hereditary diseases. Research indicates that carriers, who possess only one copy of a pathogenic variant, are typically asymptomatic. However, they may be at risk of having children with the condition if their partner is also a carrier. Because genetic research is constantly evolving, the clinical significance of specific rare variants can be updated as more data becomes available through international patient registries and clinical genetics laboratories.
Population Frequency
The rs1064794053 variant is classified as rare across global populations. While the exact frequency can vary by ancestry, it is not a common polymorphism found in the general public. Estimates for the carrier frequency of pathogenic ALDH7A1 variants in the general population are approximately 1 in 127, though this figure is a statistical estimation based on the Hardy-Weinberg principle rather than a direct count of every individual. Because the variant is rare, most people will not carry it. If you have received information about your status for this variant, it is important to remember that rare variants require careful interpretation by a qualified genetic counselor or medical geneticist who can place the finding in the context of your personal and family health history.
Navigating Your Genetic Information
If you have identified that you carry the rs1064794053 variant, it is important to understand that this information is for educational purposes and does not constitute a medical diagnosis. Carrier status for an autosomal recessive condition generally does not cause health symptoms in the carrier. However, if you are planning a family, you may wish to discuss this result with a healthcare provider or a genetic counselor. They can provide guidance on the implications for reproductive health and explain the potential for testing other family members. Never make changes to your medical care or medication regimen based on genetic reports without consulting your clinician. Genetic information is complex, and a professional can help you understand the limitations of the data and what steps, if any, are appropriate for your specific situation.
How common is this variant?
The rs1064794053 variant is rare in the general population. The estimated carrier frequency for pathogenic ALDH7A1 variants is approximately 1 in 127.
Frequently asked questions
What does it mean to be a carrier for pyridoxine-dependent epilepsy?
Being a carrier means you have one copy of a pathogenic ALDH7A1 variant. Carriers are typically asymptomatic and do not experience the seizures associated with the condition.
Can I develop epilepsy if I am a carrier?
Carrier status for ALDH7A1-related epilepsy does not typically cause the condition itself. The disorder is autosomal recessive, meaning it usually requires two pathogenic variants to manifest.
Should I be worried about this result?
A carrier result is generally not a cause for immediate medical concern for your own health. However, it is a useful piece of information for family planning, and you should discuss it with a genetic counselor.
Is there a cure for pyridoxine-dependent epilepsy?
While there is no cure, the condition is managed through lifelong supplementation with high doses of pyridoxine (vitamin B6). Early diagnosis and treatment are critical for managing symptoms.
Where can I get more information about my genetic results?
You should consult with a board-certified genetic counselor or your primary care physician. They can interpret your results in the context of your family history and provide personalized guidance.
Sources & further reading
Educational information only, last refreshed 10/12/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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