SLC26A4 rs111033316: What Your Genotype Means
The rs111033316 variant is a specific genetic change located within the SLC26A4 gene. It is classified as pathogenic and is associated with hereditary hearing loss conditions, including Pendred syndrome and enlarged vestibular aqueduct syndrome.
What each genotype means
Typical SLC26A4 profile
This genotype represents the common reference sequence for this position in the SLC26A4 gene. It is not associated with the pathogenic conditions linked to this variant, such as enlarged vestibular aqueduct or Pendred syndrome.
This is the most common genotype found in the general population across all ancestries.
Carrier of variant allele
You carry one copy of the variant allele, which is classified as pathogenic in clinical databases. Because this condition typically follows an autosomal recessive inheritance pattern, carrying a single copy is generally not sufficient to cause symptoms, though you should discuss your carrier status with a genetic counselor.
This genotype is rare in the general population.
Associated with hearing loss
This genotype involves two copies of the pathogenic variant, which is linked to hereditary hearing loss conditions such as enlarged vestibular aqueduct syndrome and Pendred syndrome. If you have this genotype, you should consult with a medical geneticist or otolaryngologist to discuss clinical implications and potential diagnostic testing.
This genotype is extremely rare in the general population.
Understanding the rs111033316 Variant
The rs111033316 variant is a single nucleotide polymorphism (SNP) located on chromosome 7 within the SLC26A4 gene. In genetics, a SNP represents a variation at a single position in the DNA sequence. This specific variant is categorized as pathogenic in clinical databases, meaning it is recognized by researchers and clinicians as a genetic change that can disrupt normal biological function. Because it is located in a gene critical for inner ear development, it is frequently studied in the context of hereditary hearing loss. Genetic variants like this are identified through molecular testing, which looks at the specific sequence of nucleotides at this location to determine if an individual carries the reference or the alternative allele.
The Role of the SLC26A4 Gene
The SLC26A4 gene provides the instructions for producing a protein called pendrin. Pendrin functions as an anion transporter, moving negatively charged ions—specifically chloride, iodide, and bicarbonate—across cell membranes. This protein is primarily expressed in the inner ear, the thyroid gland, and the kidneys. In the inner ear, pendrin is essential for maintaining the proper chemical environment required for hearing and balance. When the SLC26A4 gene is altered by pathogenic variants, the resulting pendrin protein may be non-functional or absent, which disrupts ion transport. This disruption is a known underlying cause of conditions such as Pendred syndrome, which involves both hearing loss and thyroid abnormalities, as well as nonsyndromic hearing loss characterized by an enlarged vestibular aqueduct.
Research and Clinical Evidence
Scientific research has established a strong link between pathogenic variants in SLC26A4 and sensorineural hearing loss. The evidence for the pathogenicity of variants in this gene is robust, as they are consistently identified in individuals presenting with clinical symptoms of Pendred syndrome or enlarged vestibular aqueduct (EVA). Because these conditions are inherited in an autosomal recessive manner, an individual typically needs to inherit two pathogenic variants—one from each parent—to manifest the clinical phenotype. While many variants in this gene have been documented, the clinical impact of any single variant can vary, and researchers continue to study how different mutations correlate with the severity of hearing loss. It is important to note that the presence of a single variant does not necessarily confirm a diagnosis, as clinical assessment requires a comprehensive evaluation of both genetic and physical symptoms.
Population Frequency and Distribution
The rs111033316 variant is considered rare in the general population. Genetic variants associated with recessive hearing loss conditions often show varying frequencies across different ancestral groups, with some mutations being more prevalent in specific populations due to founder effects. Because this variant is rare, it is not commonly found in the general public. Large-scale genomic databases like gnomAD provide data on the frequency of such variants, helping researchers understand their distribution globally. If you have received a report indicating the presence of this variant, it is helpful to understand that its rarity is consistent with its classification as a pathogenic variant linked to specific hereditary conditions rather than common traits.
Navigating Genetic Information
If you have identified this variant in your genetic data, it is essential to approach the information with care. A genetic finding is not a medical diagnosis. Because SLC26A4-related conditions are complex and often involve multiple systems, such as the thyroid and the inner ear, any concerns regarding hearing or health should be discussed with a qualified healthcare professional, such as a clinical geneticist or an audiologist. They can provide context based on your personal and family medical history. You should never use genetic data to make independent medical decisions or to initiate treatments. Always consult with your clinician to determine if further diagnostic testing or clinical evaluation is appropriate for your specific situation.
How common is this variant?
The rs111033316 variant is classified as rare in the general population, with its frequency varying across different ancestral groups.
Frequently asked questions
What is the link between SLC26A4 and hearing loss?
The SLC26A4 gene produces the protein pendrin, which is vital for inner ear function. Mutations in this gene can disrupt ion transport, leading to conditions like Pendred syndrome or nonsyndromic hearing loss.
Is rs111033316 a diagnosis for deafness?
No, identifying a genetic variant is not a medical diagnosis. A diagnosis requires a clinical evaluation by a healthcare professional, including physical exams and hearing tests.
What does it mean if I am a carrier of an SLC26A4 variant?
Being a carrier means you have one copy of a variant. Because these conditions are usually autosomal recessive, carriers typically do not show symptoms but can pass the variant to their children.
Should I be worried if I have this variant?
Genetic information should be discussed with a genetic counselor or physician. They can help you understand what the result means in the context of your personal health and family history.
Sources & further reading
Educational information only, last refreshed 9/26/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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