VPS13B rs1057517177: Understanding Cohen Syndrome Associations
The rs1057517177 variant is located within the VPS13B gene, which provides instructions for making a protein essential for cellular transport and development. This variant is associated with Cohen syndrome, a rare, inherited condition characterized by developmental and physical features.
What each genotype means
Carrier of VPS13B variant
You carry one copy of the insertion variant and one copy of the reference sequence. Cohen syndrome is an autosomal recessive condition, meaning that carrying a single copy of a pathogenic variant typically does not result in the clinical features of the syndrome.
This heterozygous genotype is observed at an extremely low frequency in global population databases.
Potential VPS13B-related disorder
This genotype indicates the presence of two copies of the insertion variant. Because Cohen syndrome is inherited in an autosomal recessive pattern, individuals with two pathogenic copies of the VPS13B gene may be at risk for the clinical features of the syndrome, such as developmental delay or microcephaly. Please consult with a clinical geneticist or healthcare provider to discuss these findings in the context of your personal health history.
This homozygous genotype is exceptionally rare and is not typically found in general population cohorts.
What is the rs1057517177 Variant?
The rs1057517177 variant is a specific change in the DNA sequence of the VPS13B gene. In genetics, an rsID (reference SNP cluster ID) acts as a unique identifier for a specific location in the human genome. This particular variant is found on chromosome 8. When researchers study variants like this, they look at how the specific DNA sequence differs from the common, or reference, sequence found in the general population. Because the VPS13B gene is quite large, variants can occur in many different locations, each potentially having a different impact on the protein's function. Identifying this specific variant helps clinicians and researchers pinpoint the underlying cause of certain clinical presentations, particularly those related to rare, inherited developmental disorders.
The Role of the VPS13B Gene
The VPS13B gene, also known as the COH1 gene, encodes a protein that acts as a bridge-like lipid transfer protein. This protein functions at contact sites between different organelles within the cell, facilitating the movement of lipids. It is particularly important for the proper function of the Golgi apparatus, a structure that modifies and sorts proteins for their final destinations. Research suggests that the VPS13B protein is vital for the normal growth and development of neurons and fat cells. When the gene is mutated, it can disrupt these cellular processes, leading to the complex set of symptoms observed in Cohen syndrome. The protein's role in glycosylation—the process of attaching sugar molecules to proteins—is also considered a key factor in how the cell maintains its internal organization and health.
Research and Clinical Associations
The VPS13B gene is primarily associated with Cohen syndrome, a rare autosomal recessive disorder. Individuals with this condition typically present with a range of features, including intellectual disability, microcephaly (a smaller-than-average head size), facial dysmorphism, truncal obesity, and progressive retinal dystrophy. The evidence linking pathogenic variants in VPS13B to Cohen syndrome is strong, as over 200 different mutations have been identified in patients worldwide. While some variants are clearly pathogenic, others may be classified as having uncertain significance if there is not enough evidence to confirm their impact on protein function. Clinical genetic testing often uses sequencing to identify these variants, which helps families understand the cause of a diagnosis and provides information for genetic counseling. It is important to note that the presence of a variant does not always guarantee a specific clinical outcome, as the severity of symptoms can vary significantly between individuals.
Population Frequency and Interpretation
In the context of rare genetic disorders, the frequency of a specific pathogenic variant is typically very low in the general population. While some variants in the VPS13B gene may be observed more frequently in specific clinical cohorts—groups of patients already undergoing testing for suspected genetic conditions—they remain rare in the broader public. It is common for rare disease variants to be absent or extremely scarce in large, general population databases like gnomAD. If you have received information about this variant from a clinical report, it is essential to discuss the findings with a genetic counselor or a medical geneticist. They can provide context based on your family history and clinical presentation. This information is intended for educational purposes and should not be used to self-diagnose or make medical decisions without professional guidance.
How common is this variant?
This variant is considered rare in the general population, though it is more frequently observed in clinical cohorts undergoing genetic testing for specific developmental conditions.
Frequently asked questions
What is Cohen syndrome?
Cohen syndrome is a rare, inherited disorder characterized by intellectual disability, microcephaly, and distinct facial features. It is caused by mutations in the VPS13B gene and follows an autosomal recessive inheritance pattern.
Is the VPS13B variant always harmful?
Not all variants in a gene are harmful. Some are benign, while others may have an uncertain impact. Clinical significance is determined by researchers based on functional studies and the presence of the variant in affected individuals.
Can I be tested for this variant?
Genetic testing for specific variants is typically performed in a clinical setting, often ordered by a physician or genetic counselor. It is usually recommended for individuals with specific clinical symptoms or a family history of a genetic condition.
What should I do if I have this variant?
If you have received a report indicating you carry a variant in the VPS13B gene, you should consult with a genetic counselor or a medical geneticist. They can help you understand what the result means for your health and your family.
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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This variant in the VPS13B gene is listed in clinical databases as a variant of interest for reproductive genetic screening.
This variant in the VPS13B gene is associated with clinical findings relevant to reproductive genetic screening.