CDH23 rs1057519500: What Your Genotype Means
The rs1057519500 variant is a specific genetic change located within the CDH23 gene. It is recognized in clinical databases for its association with autosomal recessive deafness 12, a condition characterized by hearing loss.
What each genotype means
Typical genetic profile
This genotype represents the common, non-variant form of this location in the CDH23 gene. It is not associated with the specific deafness-related condition linked to this variant.
This is the most common genotype found in the general population.
Carrier status
You carry one copy of the variant associated with autosomal recessive deafness 12. Because this condition is recessive, carriers typically do not experience hearing loss, but you should be aware of this status if planning a family.
This genotype is rare in the general population.
Increased risk profile
You carry two copies of this variant, which is classified as pathogenic in clinical databases regarding autosomal recessive deafness 12. Individuals with this genotype may be at risk for hearing loss, and it is recommended to consult with a genetic counselor or medical professional to discuss these findings.
This genotype is extremely rare in the general population.
Understanding the Variant and Its Location
The variant rs1057519500 is a single nucleotide polymorphism (SNP) found within the CDH23 gene. In genetics, a SNP represents a variation at a single position in the DNA sequence among individuals. The CDH23 gene is located on chromosome 10 in the human genome. This specific variant is cataloged in major genetic databases, including ClinVar and dbSNP, which track variations and their potential clinical significance. Because this variant is located within a gene responsible for critical structural proteins in the inner ear, researchers monitor it closely to understand how changes at this precise location might influence biological function. It is important to note that the presence of a variant does not automatically imply a health condition, as many genetic variations are neutral or have effects that depend on the presence of other genetic factors.
The Role of the CDH23 Gene
The CDH23 gene provides instructions for producing a protein called cadherin-23. This protein is a member of the cadherin family, which are molecules that help cells stick together. In the context of the inner ear, cadherin-23 is essential for the proper formation and organization of stereocilia. Stereocilia are hair-like projections on the surface of sensory cells that convert sound waves into electrical signals that the brain can interpret as sound. When the CDH23 gene functions correctly, it ensures these hair bundles are stable and responsive. Research has shown that mutations in this gene can disrupt this delicate mechanotransduction process. Depending on the nature of the mutation, these disruptions can lead to different clinical outcomes, ranging from nonsyndromic hearing loss, where hearing impairment is the primary symptom, to Usher syndrome, which involves both hearing loss and vision impairment.
Research and Clinical Evidence
Scientific research has established a strong link between certain variants in the CDH23 gene and autosomal recessive deafness 12 (DFNB12). This condition is inherited in an autosomal recessive pattern, meaning an individual typically needs to inherit two copies of a pathogenic variant—one from each parent—to manifest the associated hearing loss. The evidence strength for CDH23-related deafness is considered strong in clinical genetics, as multiple studies have identified specific mutations that impair the protein's function. However, it is crucial to distinguish between different types of variants. While some mutations are clearly pathogenic, others may be benign or have uncertain significance. Current research continues to map the spectrum of CDH23 variants to better understand how they contribute to the broad range of hearing loss phenotypes observed in clinical settings, including variations in the age of onset and the severity of the hearing impairment.
Population Frequency and Interpretation
The rs1057519500 variant is classified as rare in the general population. Genetic frequency data, such as that found in gnomAD, helps researchers understand how often a specific variant appears across different ancestral groups. Because this variant is rare, it is not commonly encountered in the general population, which is typical for variants associated with rare recessive conditions. When interpreting genetic information, it is important to remember that population frequency is just one piece of the puzzle. The clinical impact of a variant is often context-dependent, influenced by the individual's entire genetic background and environmental factors. If you have received information about this variant through a genetic test, it is recommended to consult with a genetic counselor or a healthcare provider who can help interpret the results in the context of your personal and family medical history.
What You Can Do With This Information
Genetic information is a powerful tool for understanding biological predispositions, but it should always be handled with professional guidance. If you are concerned about hearing loss or have a family history of genetic conditions, the most appropriate step is to speak with a clinical geneticist or an audiologist. They can provide context, order appropriate diagnostic testing if necessary, and explain what specific results mean for you or your family members. You cannot diagnose yourself or others based on a single SNP result. Avoid making medical decisions or lifestyle changes based solely on raw genetic data. Instead, use this information as a starting point for a conversation with your healthcare team. They can help you navigate the complexities of genetic testing, ensure that any findings are clinically validated, and discuss the implications for your health and family planning.
How common is this variant?
The rs1057519500 variant is considered rare across global populations, with its specific frequency varying depending on ancestral background.
Frequently asked questions
What is CDH23-related hearing loss?
CDH23-related hearing loss is a condition caused by mutations in the CDH23 gene, which affects the structure of hair cells in the inner ear. It can manifest as nonsyndromic deafness (DFNB12) or as part of Usher syndrome, which includes vision loss.
Is rs1057519500 a cause of deafness?
This variant is associated with autosomal recessive deafness 12. However, having the variant does not guarantee that an individual will experience hearing loss, as it typically requires two copies of a pathogenic mutation to cause the condition.
Should I get tested for CDH23 variants?
Genetic testing for CDH23 is usually recommended by a doctor if there is a family history of hearing loss or if a child presents with unexplained hearing impairment. You should discuss the necessity and implications of such testing with a genetic counselor.
Can I change my risk if I have this variant?
Genetic variants are inherited and cannot be changed. If you are a carrier or have the condition, the focus should be on clinical management, such as regular hearing screenings and working with specialists to manage any hearing loss.
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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