VPS13B rs1064795251: What Your Genotype Means
The rs1064795251 variant is a specific genetic change located within the VPS13B gene. This gene is primarily studied for its role in cellular protein sorting and its association with specific developmental conditions.
What each genotype means
Common reference genotype
This is the most frequently observed genotype for this location in the VPS13B gene. Research indicates this is the common sequence found in the general population.
This is the most common genotype observed across global populations.
Heterozygous variant carrier
You carry one copy of the variant allele at this position. While this variant is cataloged in clinical databases, its specific functional impact on reproductive health remains under investigation and is not considered a diagnostic finding.
This genotype is observed at a low frequency in the general population.
Homozygous variant genotype
You carry two copies of the variant allele at this position. Current clinical evidence for this specific variant is limited, and it is not definitively linked to specific reproductive conditions; consult with a genetic counselor to discuss how this fits into your broader health context.
This genotype is rare and observed infrequently in global population databases.
Understanding the Variant
The variant rs1064795251 is a single nucleotide polymorphism (SNP) situated within the VPS13B gene, which is located on the long arm of chromosome 8 (8q22.2). In genomics, a SNP represents a variation at a single position in the DNA sequence among individuals. While many SNPs are common and have no observable effect on health, others are studied for their potential to influence biological processes. This specific variant is cataloged in public databases like dbSNP, which track genetic variations across human populations. Researchers monitor such variants to understand how they might contribute to genetic diversity or, in some cases, influence susceptibility to specific health conditions. Because this variant is located in a gene known for complex cellular functions, it is often included in large-scale genomic studies and reproductive genetic screening panels to provide a more comprehensive view of an individual's genetic profile.
The Role of the VPS13B Gene
The VPS13B gene, also known as COH1, provides instructions for making a protein that functions as a bridge-like lipid transfer protein. This protein is essential for the proper operation of the Golgi apparatus, an organelle that acts as the cell's post office, sorting and packaging proteins for delivery to their final destinations. By facilitating lipid exchange at contact sites between different organelles, the VPS13B protein helps maintain cellular integrity and supports processes like glycosylation and neurite outgrowth. Because of its critical role in intracellular transport, mutations in this gene have been historically linked to Cohen syndrome, a rare condition characterized by developmental delays, intellectual disability, and distinctive facial features. Understanding the normal function of this gene is vital for researchers, as it helps them distinguish between benign genetic variations and those that may have clinical significance in the context of developmental or reproductive health.
Research and Evidence Strength
The evidence linking specific variants in VPS13B to clinical outcomes varies significantly. While certain rare, pathogenic mutations in this gene are well-documented as causes of Cohen syndrome, the clinical significance of common variants like rs1064795251 is often less clear. In the context of reproductive genetic screening, this variant is sometimes monitored, but it is important to note that the evidence strength for this specific SNP is considered moderate. This means that while it is identified in research databases, it does not necessarily imply a direct cause of disease. Genomic research is an evolving field, and associations that appear in early studies often require further validation through larger, diverse population cohorts. Consumers should view this information as a piece of a much larger biological puzzle rather than a definitive diagnostic tool, as many factors beyond a single SNP contribute to reproductive and developmental health outcomes.
Interpreting Your Results
When you receive information about a genetic variant like rs1064795251, it is essential to maintain perspective on what this data can and cannot tell you. Genetic testing provides a snapshot of your DNA, but it does not predict your future health with absolute certainty. This variant is not a diagnosis, and its presence does not mean you have or will develop a specific condition. If you are reviewing this information as part of reproductive screening, it is best to discuss the findings with a qualified genetic counselor or a healthcare provider. These professionals can help you interpret the results in the context of your personal and family medical history. They are equipped to explain the limitations of current research and guide you on whether any further clinical action or testing is appropriate. Never make medical decisions based solely on raw genetic data without professional clinical guidance.
How common is this variant?
The rs1064795251 variant is noted as being common in ClinVar, appearing across various ancestral populations as part of normal human genetic variation.
Frequently asked questions
What is the VPS13B gene?
The VPS13B gene provides instructions for making a protein involved in moving lipids and sorting proteins within cells. It is essential for the proper function of the Golgi apparatus and overall cellular health.
Is rs1064795251 a disease-causing mutation?
No, this variant is a common SNP and is not classified as a disease-causing mutation. While the VPS13B gene can harbor rare, pathogenic mutations, this specific variant is generally considered part of normal genetic diversity.
Should I be worried if this variant appears on my report?
There is no reason for concern. Many variants included in screening reports are listed for informational purposes or because they are part of a larger panel. Always consult with a genetic counselor to understand what your specific results mean for you.
How can I learn more about my genetic results?
The best way to understand your results is to speak with a healthcare provider or a board-certified genetic counselor. They can provide context based on your personal health history and the latest clinical research.
Sources & further reading
Educational information only, last refreshed 10/10/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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