PEX1 rs61750415: What Your Genotype Means
The rs61750415 variant is a specific genetic change located within the PEX1 gene. It is recognized as a pathogenic variant associated with the development of Zellweger spectrum disorders when inherited in a specific pattern.
What each genotype means
Zellweger spectrum disorder carrier
You carry one copy of the pathogenic frameshift variant c.2097dupT in the PEX1 gene, classifying you as an asymptomatic carrier for autosomal recessive Zellweger spectrum disorder (peroxisome biogenesis disorder 1A). As a carrier, you are not expected to show symptoms of the disorder, but there is a reproductive consideration if your partner also carries a pathogenic variant in PEX1. Genetic counseling can provide detailed guidance regarding family planning and reproductive risk assessments.
Carried by roughly 1 in 5,000 individuals in European populations, with a minor allele frequency of approximately 0.01% in gnomAD.
Zellweger spectrum disorder risk
Carrying two copies of this pathogenic insertion variant results in severe loss of PEX1 protein function, which published research strongly associates with autosomal recessive peroxisome biogenesis disorder 1A (Zellweger spectrum disorder). This condition is typically characterized by early-onset multisystem involvement including neurological impairment, liver dysfunction, and developmental delays. Clinical correlation and evaluation with a medical geneticist are strongly advised.
Extremely rare across all populations, with an estimated prevalence of less than 1 in several million individuals.
Understanding the rs61750415 Variant
The variant rs61750415, also known as c.2097dupT or p.Ile700Tyrfs, is a genetic alteration located on chromosome 7 within the PEX1 gene. In genetic terms, this variant is a duplication that causes a frameshift in the protein-coding sequence, which typically leads to the production of a non-functional or truncated protein. Because this change disrupts the normal reading frame of the gene, it is classified as a pathogenic variant. It is important to note that genetic variants like this are identified through specialized sequencing technologies. While this variant is documented in databases like dbSNP and ClinVar, it is considered a rare finding in the general population. Understanding its location and nature helps researchers and clinicians assess its potential impact on cellular function, specifically regarding the assembly and maintenance of peroxisomes.
The Role of the PEX1 Gene
The PEX1 gene provides the instructions for creating the peroxisome biogenesis factor 1 protein. This protein is a member of the AAA ATPase family, which acts as a molecular motor to facilitate various cellular activities. Its primary responsibility is to assist in the formation and maintenance of peroxisomes, which are small, membrane-bound compartments found in almost all human cells. Peroxisomes are essential for breaking down fatty acids and other substances that are toxic if allowed to accumulate. When the PEX1 gene is mutated, the resulting protein may be unable to perform these tasks effectively. This failure leads to a deficiency in peroxisome function, which is the underlying cause of a group of conditions known as Zellweger spectrum disorders. These disorders can affect multiple organ systems, including the liver, brain, and kidneys, due to the inability of cells to properly process specific metabolic materials.
Research and Clinical Associations
Research has established a strong link between biallelic mutations in the PEX1 gene and Zellweger spectrum disorders. The condition follows an autosomal recessive inheritance pattern, meaning an individual must typically inherit two copies of a pathogenic variant—one from each parent—to manifest the disorder. The rs61750415 variant is specifically noted in clinical literature as a pathogenic mutation. However, the evidence strength for this specific variant is often categorized as limited in broader population studies due to its rarity. Most clinical reports involve individuals who are either homozygous for the variant or compound heterozygous, meaning they carry this variant alongside a different pathogenic mutation in the same gene. Because of the severity of the associated conditions, PEX1 is frequently included in carrier screening panels. If you have concerns about your carrier status or family history, it is essential to consult with a genetic counselor or a medical professional who can provide context based on your specific clinical situation.
Population Frequency
The rs61750415 variant is extremely rare in the general population. According to data from gnomAD, the minor allele frequency is approximately 0.0001 in European populations. Because the variant is so uncommon, the vast majority of individuals do not carry this specific mutation. Its rarity means that the likelihood of an individual being a carrier is very low, and the probability of two carriers having a child with a Zellweger spectrum disorder is statistically small. These frequency statistics are based on large-scale genomic databases, which help researchers understand the distribution of rare variants across different ancestral groups. While these numbers provide a general perspective on how often the variant appears, they do not replace the need for personalized clinical testing if there is a known family history of peroxisomal disorders.
What This Information Means for You
If you have received information regarding your status for rs61750415, it is important to understand that this is a carrier status marker. Being a carrier generally means you have one copy of the variant and one typical copy of the gene, which typically does not result in the symptoms of a Zellweger spectrum disorder. However, if you are planning to start a family, you may wish to discuss your carrier status with a partner to understand the potential risks for future children. This information is for educational purposes and should not be used to diagnose any condition. Always consult with a qualified healthcare provider or a genetic counselor to interpret your results in the context of your personal and family health history. They can offer guidance on whether further diagnostic testing is appropriate for you or your family members.
How common is this variant?
The rs61750415 variant is very rare, with a minor allele frequency of approximately 0.0001 in European populations according to gnomAD data.
Frequently asked questions
What is a carrier of a PEX1 variant?
A carrier is someone who has one copy of a pathogenic variant in the PEX1 gene and one typical copy. Carriers typically do not show symptoms of the associated disorder because the typical copy of the gene is usually sufficient for normal function.
Is rs61750415 the same as Zellweger syndrome?
The rs61750415 variant is a specific mutation that can contribute to the development of Zellweger spectrum disorders. However, having this variant alone does not mean you have the syndrome, as the condition is typically inherited in an autosomal recessive manner.
Should I be worried if I am a carrier?
Being a carrier is common for many genetic variants and generally does not affect your own health. If you are concerned about family planning, you should speak with a genetic counselor to understand the inheritance risks.
How is this variant detected?
This variant is detected through clinical genetic testing, such as sequencing or targeted genotyping panels. These tests analyze your DNA to identify specific changes in the PEX1 gene sequence.
Sources & further reading
Educational information only, last refreshed 10/11/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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