ENG rs373842615: Understanding This Rare Vascular Variant
The rs373842615 variant is a rare genetic change located within the ENG gene. It has been identified in clinical research as a potentially pathogenic variant associated with hereditary hemorrhagic telangiectasia type 1, a condition affecting blood vessel development.
What each genotype means
Typical ENG genotype
This genotype represents the most common sequence observed at this position in the ENG gene. Because this variant is rare, carrying the common sequence is the expected finding for the vast majority of the population. It does not indicate an increased risk for vascular disorders associated with this specific genetic location.
This is the most common genotype found across all global populations.
Rare ENG variant carrier
You carry one copy of the rare T allele at this position in the ENG gene. While variants in ENG are studied for their potential role in vascular conditions like hereditary hemorrhagic telangiectasia, the clinical significance of this specific rare variant remains uncertain. You should discuss any personal or family history of vascular health concerns with a qualified healthcare provider or genetic counselor.
This genotype is extremely rare and is observed in only a tiny fraction of individuals in global population databases.
Rare ENG variant homozygous
You carry two copies of the rare T allele at this position in the ENG gene. Because this variant is very uncommon, there is limited scientific data available to determine its specific impact on health. It is important to interpret this result in the context of your overall health and family history by consulting with a medical professional.
This genotype is exceptionally rare and is not typically observed in standard population frequency studies.
What is rs373842615?
The rs373842615 variant is a specific change in the DNA sequence located on chromosome 9. In genetic databases, it is categorized as a single nucleotide polymorphism (SNP), which means it represents a variation at a single position in the genome. This particular variant is found within the ENG gene, which provides the blueprint for the endoglin protein. Because this variant is rare, it is not commonly found in the general population. Geneticists and researchers track such variants to understand how specific changes in our DNA code might influence biological processes or contribute to the development of certain health conditions. When a variant is identified as potentially pathogenic, it means that scientific evidence suggests it may disrupt the normal function of the associated gene, potentially leading to clinical symptoms.
The Role of the ENG Gene
The ENG gene is essential for the production of a protein called endoglin. Endoglin is primarily found on the surface of cells that line the interior of blood vessels, known as endothelial cells. It plays a critical role in the development and maintenance of the vascular system by forming complexes with growth factors that regulate how blood vessels grow and repair themselves. When the ENG gene contains a mutation that impairs the function of the endoglin protein, it can disrupt these delicate signaling pathways. This disruption is a known factor in the development of hereditary hemorrhagic telangiectasia (HHT), a condition characterized by abnormal connections between arteries and veins, known as arteriovenous malformations, which can lead to bleeding and other vascular complications.
Research and Clinical Significance
Research into rs373842615 has linked it to hereditary hemorrhagic telangiectasia type 1. Clinical databases, such as ClinVar, have classified this variant as pathogenic based on its association with the condition. The evidence for this association is considered moderate to strong in the context of clinical genetics, as it is identified in individuals presenting with symptoms of HHT. However, it is important to note that the presence of a variant does not guarantee that an individual will develop a specific disease, nor does it define the severity of potential symptoms. Genetic research is ongoing, and scientists continue to study how different variants in the ENG gene interact with other genetic and environmental factors to influence vascular health. Current studies emphasize that HHT may be underdiagnosed, and further research is needed to fully understand the spectrum of clinical outcomes associated with this specific variant.
Population Frequency
The rs373842615 variant is classified as rare. Because it is not a common polymorphism, it is not typically found in the vast majority of the human population. Large-scale genomic databases like gnomAD are used by researchers to estimate the frequency of such variants across different ancestral groups. For rare variants like this one, the frequency is often so low that it may not be detected in smaller study cohorts. The rarity of this variant underscores the importance of clinical genetic testing for individuals who have a family history of vascular disorders or who exhibit clinical symptoms consistent with HHT. If you have received information about this variant from a genetic test, it is essential to discuss the findings with a qualified healthcare provider or a genetic counselor who can interpret the results in the context of your personal and family medical history.
Managing Genetic Information
Understanding your genetic profile can be a powerful tool, but it must be used responsibly. If you have identified that you carry the rs373842615 variant, it is important to remember that this information is not a medical diagnosis. Genetic variants are only one piece of a complex puzzle that includes your environment, lifestyle, and other genetic factors. You cannot use this information to self-diagnose or make independent decisions about your health. Instead, use this knowledge to facilitate a conversation with your doctor. A healthcare professional can help you understand the clinical relevance of the finding, determine if further diagnostic testing is appropriate, and discuss potential screening or management strategies if necessary. Always rely on clinical evaluation and professional medical advice rather than direct-to-consumer genetic reports when making decisions about your health.
How common is this variant?
The rs373842615 variant is considered rare across all major population groups, with very low allele frequencies observed in global genomic databases.
Frequently asked questions
What is hereditary hemorrhagic telangiectasia?
Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder that causes abnormal blood vessel formation, often leading to bleeding and vascular malformations. It is an autosomal dominant condition, meaning a single copy of a pathogenic variant can cause the disease.
Does having this variant mean I have HHT?
Not necessarily. While this variant is associated with HHT, genetic testing results must be interpreted by a clinician alongside your physical symptoms and family history. A genetic variant is a risk factor, not a definitive diagnosis of a clinical condition.
Should I be worried if I have this variant?
Finding a rare variant can be concerning, but it is important to remain calm and consult a medical professional. A genetic counselor can help you understand what this means for your health and whether your family members should also be tested.
Can I fix this genetic variant?
Currently, there is no way to 'fix' or edit a genetic variant in a clinical setting. Medical management for conditions like HHT focuses on treating the symptoms and preventing complications through regular monitoring and specialized care.
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.