CDH23 rs397517350: Understanding This Usher Syndrome Variant
The genetic variant rs397517350 is a specific alteration located within the CDH23 gene. It is classified as a pathogenic variant associated with Usher syndrome type 1D, a condition characterized by hearing and vision loss.
What each genotype means
Typical genetic profile
This genotype represents the common, non-pathogenic sequence at this specific location in the CDH23 gene. It is considered the reference sequence and is not associated with the specific Usher syndrome type 1D risk linked to this variant.
This is the most common genotype found in the general population.
Carrier of rare variant
This genotype indicates you carry one copy of a deletion variant (often noted as a single base pair deletion) in the CDH23 gene. Because Usher syndrome type 1D is an autosomal recessive condition, carrying a single copy typically does not cause the syndrome, but you should consult with a genetic counselor regarding reproductive risks.
This genotype is rare in the general population.
What is rs397517350 and Where is it Located?
The variant rs397517350 is a specific change in the human genome located on chromosome 10. In scientific literature and databases like ClinVar, this variant is often described as a deletion of a single cytosine base, sometimes represented as a frameshift mutation. Because it occurs within the coding sequence of the CDH23 gene, it has the potential to disrupt the production of the protein that the gene encodes. Genetic variants like this are identified by their unique reference SNP cluster ID (rsID), which allows researchers to track the same specific location across different studies and populations. Understanding the exact location of this variant is critical for clinical geneticists who use this information to interpret the results of genetic testing for individuals presenting with symptoms of hereditary sensory disorders.
The Role of the CDH23 Gene
The CDH23 gene provides instructions for making a protein called cadherin-23. This protein is a member of the cadherin family, which are molecules that help cells stick together, a process known as cell adhesion. In the inner ear, cadherin-23 is essential for the proper structure and function of hair cells, which are the sensory cells responsible for converting sound waves into electrical signals for the brain. It also plays a vital role in the retina, the light-sensitive tissue at the back of the eye. When the CDH23 gene is altered by pathogenic variants, the resulting cadherin-23 protein may be non-functional or absent. This disruption prevents the hair cells and photoreceptor cells from maintaining their structural integrity, which leads to the combined hearing and vision loss characteristic of Usher syndrome type 1D.
Research Associations and Evidence Strength
Research has established a strong link between pathogenic variants in the CDH23 gene and Usher syndrome type 1D. Usher syndrome is a genetically heterogeneous condition, meaning it can be caused by mutations in several different genes. The evidence for rs397517350 being pathogenic is supported by its classification in clinical databases, where it is linked to the development of Usher syndrome type 1D. Studies have shown that individuals with this condition typically experience congenital hearing loss and progressive vision loss due to retinitis pigmentosa. While the association between CDH23 mutations and Usher syndrome is well-documented, the clinical expression can vary between individuals. It is important to note that the presence of a single variant does not guarantee a specific clinical outcome, as Usher syndrome is typically inherited in an autosomal recessive pattern, requiring variants to be present on both copies of the gene.
Population Frequency and Clinical Context
The variant rs397517350 is considered rare in the general population. Because Usher syndrome is a rare genetic disorder, the specific variants that cause it are not commonly found in the general public. Large-scale genomic databases, such as gnomAD, are used by researchers to estimate the frequency of such variants across diverse ancestral groups. For rare variants like this one, the frequency is often extremely low, which is consistent with the low prevalence of Usher syndrome type 1D in the global population. When a variant is identified in a clinical setting, it is often in the context of a diagnostic workup for a patient already exhibiting symptoms of hearing or vision impairment. Genetic counselors play a key role in helping families understand what these frequency statistics mean in the context of their own health and family history.
What You Can and Cannot Do With This Information
If you have received information about this variant through genetic testing, it is essential to discuss the results with a qualified healthcare professional, such as a medical geneticist or a genetic counselor. They can provide context based on your personal and family medical history, which is necessary to interpret the clinical significance of any genetic finding. You cannot use this information to self-diagnose or predict the exact progression of a condition. Genetic testing for rare variants is complex, and results should always be interpreted by experts who can distinguish between pathogenic variants and benign genetic diversity. If you are concerned about your risk for Usher syndrome or other hereditary conditions, consult with your clinician to determine if diagnostic testing or clinical evaluation is appropriate for your specific situation.
How common is this variant?
The variant rs397517350 is rare in the general population, consistent with the low prevalence of Usher syndrome type 1D.
Frequently asked questions
What is Usher syndrome type 1D?
Usher syndrome type 1D is a genetic disorder characterized by congenital hearing loss and progressive vision loss caused by retinitis pigmentosa. It is caused by mutations in the CDH23 gene.
Is rs397517350 the only cause of Usher syndrome?
No, Usher syndrome is genetically heterogeneous, meaning it can be caused by mutations in many different genes, including MYO7A, USH1C, and PCDH15, among others.
How is this variant inherited?
This variant is inherited in an autosomal recessive pattern. This means that an individual typically needs to inherit two copies of a pathogenic variant—one from each parent—to be affected by the condition.
Should I get tested for this variant?
Genetic testing should be discussed with a healthcare provider or a genetic counselor. They can help determine if testing is appropriate based on your symptoms or family history.
Where can I find more information on CDH23?
You can find reliable information about the CDH23 gene and related conditions on resources like MedlinePlus Genetics or the NCBI Gene database.
Sources & further reading
Educational information only, last refreshed 10/3/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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