ENG Gene Variant rs368423516: Understanding Your Results
The rs368423516 variant is a rare genetic change located within the ENG gene. It has been identified in clinical settings and is associated with research into hereditary hemorrhagic telangiectasia (HHT).
What each genotype means
Typical ENG genotype
This genotype represents the most common sequence observed at this position in the ENG gene. It is considered the baseline or reference state for this location in the human genome.
This is the most frequent genotype found across all global populations.
Rare variant carrier
You carry one copy of the rare variant at this position in the ENG gene. Because this is a rare variant, its specific clinical significance is currently classified as uncertain or limited in scientific literature, and it is not definitively linked to a specific health condition.
This genotype is extremely rare and is found in a very small fraction of the global population.
Rare variant homozygous
You carry two copies of this rare variant in the ENG gene. As this variant is rare, there is insufficient clinical evidence to determine if this genotype has any impact on your health or biological function.
This genotype is exceptionally rare and is observed in a negligible percentage of the population.
What is rs368423516?
The identifier rs368423516 refers to a specific single nucleotide polymorphism (SNP) located on chromosome 9. In the context of the human genome, this variant sits within the ENG gene, which provides the blueprint for the endoglin protein. Genetic variants like this one represent a change in a single "letter" of the DNA sequence. While many such changes are common and have no impact on health, others are rare and are studied for their potential role in biological processes. This particular variant is categorized as rare, meaning it is not frequently observed in the general population. Because it is located in a gene known for its role in vascular development, researchers and clinicians often monitor such variants to understand their potential influence on health outcomes.
The Role of the ENG Gene
The ENG gene is responsible for producing a protein called endoglin. This protein is primarily found on the surface of cells that line the interior of blood vessels, particularly in developing arteries. Endoglin functions as part of a complex that interacts with various growth factors, playing a critical role in the formation and maintenance of the vascular system. When the ENG gene is altered, it can disrupt the production or function of the endoglin protein. Such disruptions are well-documented in the scientific literature as being linked to hereditary hemorrhagic telangiectasia type 1 (HHT1), a condition that affects the development of blood vessels and can lead to abnormal connections between arteries and veins. Understanding the function of this gene is essential for interpreting how specific variants might contribute to clinical symptoms.
Research and Clinical Evidence
Research into rs368423516 is primarily grounded in clinical genetic testing. In some databases, this variant has been noted in the context of HHT, a condition characterized by vascular abnormalities. However, the evidence strength for this specific variant is considered moderate. In clinical genetics, "moderate" evidence often suggests that while the variant has been observed in individuals with specific symptoms, more comprehensive functional studies or larger population-based data are required to definitively classify its impact. It is important to note that the presence of a variant does not automatically equate to a diagnosis. Many variants identified in clinical testing are subject to ongoing re-evaluation as more data becomes available. Researchers continue to study how such non-coding or rare variants influence the complex pathways of vascular health.
Population Frequency
The rs368423516 variant is classified as rare. In large-scale population databases, such as gnomAD, rare variants are those that appear at very low frequencies across diverse ancestral groups. Because this variant is not common, it is not typically found in the general population, which makes it a focus of targeted clinical investigation rather than broad population screening. The rarity of this variant means that there is limited data regarding its distribution across different ethnicities. When a variant is this rare, it is often identified through "proband" testing—where an individual with a specific set of symptoms undergoes genetic analysis—rather than through general population surveys. Consequently, our understanding of its frequency is largely derived from clinical cohorts rather than the general public.
Navigating Your Genetic Information
If you have received a report mentioning rs368423516, it is important to approach this information with the guidance of a qualified healthcare professional. Genetic reports can be complex, and the clinical significance of a variant often depends on your personal and family medical history. You cannot determine your health status based on this SNP alone. If this variant was identified in the context of a clinical test, your doctor or a genetic counselor is the best resource to help you understand what it means for you. They can provide context regarding whether this finding is relevant to your health or if it is considered a benign variation. Always discuss any concerns about genetic findings with your clinician, and avoid making medical decisions based solely on online databases or raw genetic data.
How common is this variant?
The rs368423516 variant is considered rare, with no significant frequency reported across major global ancestral populations in standard databases.
Frequently asked questions
What is the ENG gene?
The ENG gene provides instructions for making the endoglin protein, which is essential for the proper development and maintenance of blood vessels. Mutations in this gene are known to be associated with hereditary hemorrhagic telangiectasia.
Is rs368423516 a cause of disease?
The evidence for this variant is moderate. While it has been identified in clinical testing, its exact role in disease is not fully established, and it should be interpreted by a medical professional in the context of your overall health.
Should I be worried if I have this variant?
Finding a rare variant does not necessarily mean you have a health condition. You should discuss the results with a genetic counselor or your doctor, who can interpret the finding based on your specific clinical history.
Where can I find more information about this SNP?
You can look up the variant on public databases like ClinVar or the NCBI SNP database. These resources provide technical information, but they are intended for research and clinical use rather than personal medical advice.
Sources & further reading
Educational information only, last refreshed 10/9/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Genetic variant identified in the ENG gene, relevant for clinical screening of vascular disorders.
A known pathogenic mutation in the ENG gene linked to vascular malformations.
Pathogenic variant in the ENG gene associated with hereditary hemorrhagic telangiectasia type 1.
A variant in the ENG gene potentially impacting protein function related to vascular development.
This variant is located within the ENG gene, which is associated with hereditary hemorrhagic telangiectasia.
Clinically significant variant in the ENG gene associated with hereditary hemorrhagic telangiectasia.