ACADVL rs118204017: Understanding Carrier Status
The rs118204017 variant is a genetic change located in the ACADVL gene. It is recognized in clinical research as a marker associated with carrier status for very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency.
What each genotype means
Typical ACADVL genotype
This genotype represents the common, non-pathogenic form of the ACADVL gene at this specific location. It is not associated with VLCAD deficiency.
This is the most common genotype found in the general population.
Carrier of VLCAD deficiency
This genotype indicates you carry one copy of the pathogenic variant (also known as p.Phe458Leu) associated with VLCAD deficiency. As this condition is inherited in an autosomal recessive pattern, carriers typically do not exhibit symptoms of the disorder, but you should discuss this result with a genetic counselor or clinician to understand the implications for family planning.
This genotype is rare in the general population.
Potential VLCAD deficiency
This genotype indicates the presence of two copies of the pathogenic variant associated with VLCAD deficiency. This condition affects the body's ability to break down certain fats for energy and can lead to symptoms such as cardiomyopathy or metabolic crises; please consult with a medical professional or metabolic specialist for clinical evaluation and guidance.
This genotype is extremely rare.
What is the rs118204017 Variant?
The rs118204017 variant is a specific change in the DNA sequence of the ACADVL gene, located on chromosome 17. In genetic terms, this variant represents a single nucleotide polymorphism (SNP) where a thymine (T) is replaced by a cytosine (C). This specific location is monitored by researchers because changes here can alter the instructions the body uses to build essential proteins. When a variant is identified as a carrier marker, it means that an individual possesses one copy of the altered gene, while the other copy typically functions normally. Because VLCAD deficiency is an autosomal recessive condition, carrying a single variant usually does not cause the symptoms of the disease itself, but it is important information for understanding one's genetic profile.
The Role of the ACADVL Gene
The ACADVL gene provides the blueprint for creating the very long-chain acyl-CoA dehydrogenase (VLCAD) enzyme. This enzyme is located within the mitochondria, the powerhouses of our cells, and is responsible for the first step in breaking down a specific group of fats known as very long-chain fatty acids. These fats are a critical energy source for the heart and skeletal muscles, especially during periods of fasting or intense physical activity. When the ACADVL gene is not functioning correctly, the body cannot efficiently convert these fats into energy. This can lead to a buildup of toxic byproducts and a lack of fuel for vital organs, which is the underlying mechanism of VLCAD deficiency.
Research and Clinical Evidence
Clinical evidence, including data curated by the ClinGen ACADVL Variant Curation Expert Panel, classifies this variant as having significance in the context of VLCAD deficiency. Research has identified this variant in individuals who are compound heterozygous, meaning they carry this variant alongside a different pathogenic mutation on their other chromosome. These individuals have shown biochemical markers consistent with VLCAD deficiency, such as elevated C14:1 acylcarnitine levels or reduced enzyme activity. Because the evidence is based on clinical observations of affected individuals, it is considered a significant finding in genetic testing. However, the clinical impact of any single variant can be complex, and it is always evaluated in the context of a person's entire genetic makeup and clinical history.
Population Frequency
The rs118204017 variant is considered rare in the general population. Because it is not a common polymorphism, it is not typically found in the majority of individuals across various ancestral groups. Its rarity means that most people do not carry this specific genetic change. When it is identified, it is usually through targeted clinical testing or newborn screening programs that look for markers of metabolic disorders.
What This Information Means for You
If you have received information about this variant, it is important to understand that it relates to carrier status for a recessive condition. Being a carrier generally does not mean you have the disease, but it does mean you carry a genetic instruction that could be passed to offspring. This information is best used in consultation with a healthcare provider or a genetic counselor who can explain the implications for family planning and health. You cannot use this information to diagnose yourself or others. If you have concerns about your health or metabolic function, discuss them with your physician. They can order appropriate clinical tests, such as acylcarnitine analysis, to determine if there is any impact on your metabolic health.
How common is this variant?
The rs118204017 variant is rare across all major population groups, appearing infrequently in global genetic databases.
Frequently asked questions
What is VLCAD deficiency?
VLCAD deficiency is a rare metabolic disorder that prevents the body from breaking down certain fats into energy. This can lead to symptoms like low blood sugar, muscle weakness, and heart problems, especially during fasting or illness.
Does being a carrier mean I have the disease?
Generally, no. Because VLCAD deficiency is an autosomal recessive condition, carriers typically do not show symptoms of the disorder because they have one functional copy of the gene.
Should I be worried if I have this variant?
Finding this variant is not a cause for immediate alarm, but it is a piece of information that should be discussed with a healthcare professional. A genetic counselor can help you understand what this means for your health and your family.
How is this variant detected?
This variant is typically identified through DNA sequencing, which can be part of a carrier screening panel or diagnostic testing for metabolic conditions. It is not usually detected by standard blood tests used for general health checkups.
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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