EDN1 rs587777231: What Your Genotype Means
The genetic variant rs587777231 is a specific change located within the EDN1 gene. It is primarily recognized in clinical databases for its association with carrier status for auriculocondylar syndrome 3.
What each genotype means
Typical EDN1 genotype
This is the common, reference genotype for this position in the EDN1 gene. Individuals with this genotype do not carry the specific variant associated with auriculocondylar syndrome 3.
This is the most common genotype found in the general population.
Carrier of auriculocondylar syndrome 3
This genotype indicates you are a carrier of a variant in the EDN1 gene associated with autosomal recessive auriculocondylar syndrome 3. Carriers typically do not show signs or symptoms of the condition, as this disorder generally requires two copies of a variant to manifest.
This is a rare genotype in the general population.
Potential auriculocondylar syndrome 3
This genotype represents the presence of two copies of the variant associated with auriculocondylar syndrome 3. Auriculocondylar syndrome 3 is a rare condition that can cause craniofacial and ear malformations, and you should consult with a medical geneticist or healthcare provider to discuss these findings.
This is an extremely rare genotype.
Understanding the Variant
The variant rs587777231 is a single nucleotide polymorphism (SNP) located on chromosome 6. In genetic databases, it is identified by its reference sequence position, which marks a specific point where the DNA code can vary between individuals. This particular variant involves a change in the nucleotide sequence of the EDN1 gene. When researchers study such variants, they look at how these small changes in the genetic code might influence the production or function of proteins. Because this variant is classified as rare, it is not commonly found in the general population, and its presence is often investigated in the context of specific clinical presentations related to developmental biology.
The Role of the EDN1 Gene
The EDN1 gene provides the instructions for creating a protein known as endothelin-1. This protein plays a critical role in various biological processes, including the regulation of blood vessel constriction, hormone production, and cell growth. During embryonic development, endothelin-1 is essential for the proper maturation of neural crest cells. These cells are responsible for forming many structures in the head and face, including the bones and tissues of the jaw and ears. Because of its involvement in these developmental pathways, mutations or variations in the EDN1 gene can potentially disrupt normal facial morphogenesis, which is why the gene is closely studied in relation to conditions that affect these specific anatomical areas.
Research and Clinical Associations
Scientific research has linked the rs587777231 variant to auriculocondylar syndrome 3, a rare condition characterized by differences in the development of the ears and the lower jaw. Evidence for this association is documented in clinical databases like ClinVar, where the variant is categorized as pathogenic in the context of this syndrome. It is important to note that being a carrier of a pathogenic variant does not necessarily mean an individual will exhibit symptoms of the condition. In many genetic contexts, carrier status implies that an individual carries one copy of a variant that, if inherited in a specific pattern or combined with other genetic factors, could be associated with a clinical phenotype. The strength of this evidence is considered moderate, reflecting the ongoing nature of clinical genetic research.
Population Frequency and Interpretation
The rs587777231 variant is classified as rare across global populations. Because it is not a common polymorphism, it is not typically found in the general public at high frequencies. When interpreting genetic data, it is essential to understand that the presence of a rare variant does not constitute a medical diagnosis. Genetic testing results should always be interpreted by a qualified healthcare professional or a genetic counselor who can place the findings within the context of an individual's personal and family medical history. If you have received information about this variant from a genetic test, you should discuss the implications with your clinician to understand what it means for your specific health situation.
How common is this variant?
The rs587777231 variant is considered rare in the general population, with specific genotype frequencies varying significantly by ancestry.
Frequently asked questions
What is auriculocondylar syndrome 3?
Auriculocondylar syndrome 3 is a rare genetic condition that primarily affects the development of the ears and the lower jaw. It is caused by specific mutations in the EDN1 gene.
Does having the rs587777231 variant mean I have a disease?
No, identifying a genetic variant does not equate to a medical diagnosis. You should consult with a healthcare provider or genetic counselor to understand the clinical significance of your specific results.
Is this variant common?
No, rs587777231 is classified as a rare variant. It is not commonly found in the general population.
What should I do if my test shows I am a carrier?
If you are concerned about your carrier status, you should schedule an appointment with a genetic counselor or your primary care physician. They can help you interpret the results in the context of your family history and overall health.
Sources & further reading
Educational information only, last refreshed 9/18/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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