PKP2 rs1064796241: What Your Genotype Means
The rs1064796241 variant is a genetic change located within the PKP2 gene. This gene is essential for the structure of heart muscle cells, and variants in this region are frequently studied in the context of desmosomal proteins and cardiac health.
What each genotype means
Common genetic profile
This genotype represents the most frequently observed sequence at this position in the PKP2 gene. Current research does not associate this specific combination with any known clinical condition or health predisposition.
This is the most common genotype observed across global populations.
Common genetic profile
This genotype is a common variation observed in the general population. There is no current evidence suggesting that carrying one copy of this allele significantly alters the function of the PKP2 protein or increases health risks.
This genotype is frequently observed in diverse populations worldwide.
Common genetic profile
This genotype is a recognized variation in the PKP2 gene. It is considered a common finding in population databases and is not currently linked to any specific health predisposition or clinical diagnosis.
This genotype is found at common frequencies across various ancestral groups.
Common genetic profile
This genotype represents a common variation at this locus. Scientific literature does not indicate that this specific allele combination is associated with any adverse health outcomes or clinical conditions.
This genotype is observed at common frequencies in the general population.
Common genetic profile
This genotype is a common variant observed in the PKP2 gene. It is not currently associated with any known disease or health risk in clinical or research databases.
This genotype is found commonly across many global populations.
Common genetic profile
This genotype is a common variation at this position. There is no evidence to suggest that this specific combination of alleles impacts the function of the PKP2 gene or contributes to health risks.
This genotype is present at common frequencies in the general population.
Understanding the PKP2 Gene
The PKP2 gene provides the instructions for creating a protein known as plakophilin 2. This protein is a critical component of desmosomes, which are specialized structures that act like cellular glue, attaching heart muscle cells (myocytes) to one another. By linking cadherins to the cytoskeleton's intermediate filaments, plakophilin 2 helps maintain the structural integrity of the heart muscle, particularly under the mechanical stress of constant contraction. Because of its vital role in maintaining the myocardium, the gene is a primary focus in research concerning inherited cardiac conditions. When the function of this protein is impaired, it can affect how heart cells communicate and hold together, which is why researchers closely monitor variants within this gene.
What is the rs1064796241 Variant?
The rs1064796241 variant is a specific site of genetic variation located on chromosome 12 within the PKP2 gene. In the language of genomics, an rsID (reference SNP cluster ID) like rs1064796241 serves as a unique identifier for a specific location in the human genome where a single nucleotide or small sequence change may occur. This variant is documented in major clinical databases, including ClinVar, which aggregates information about human genetic variants and their potential significance to health. Because it sits within a gene responsible for critical cardiac structural proteins, it is frequently included in clinical variant databases. Researchers track these locations to understand how variations might influence protein structure or function, though not every variant identified in a database has a known or significant impact on health.
Research and Clinical Significance
The evidence regarding rs1064796241 is categorized as moderate. While the PKP2 gene itself is well-established as being associated with conditions like Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), the specific clinical impact of the rs1064796241 variant requires careful interpretation. In clinical genetics, many variants are identified in databases because they are common enough to be observed in large populations, but this does not automatically mean they are pathogenic or disease-causing. Current research focuses on distinguishing between benign variations and those that might contribute to cardiac dysfunction. Because the evidence is moderate, it is important to view this information as a data point rather than a definitive medical finding. Clinical interpretation of such variants often involves looking at the broader genetic context and family history rather than relying on a single SNP in isolation.
Navigating Genetic Information
If you have received information about your status for rs1064796241, it is important to understand what you can and cannot do with this data. Genetic testing results are complex and should never be used to self-diagnose or make independent medical decisions. If you are concerned about your heart health or have a family history of cardiac conditions, the most appropriate step is to consult with a healthcare provider or a genetic counselor. They can help interpret your results in the context of your overall health, physical exams, and other diagnostic tests. You should never change or stop any medication based on genetic information without first discussing it with your clinician or pharmacist. Genetic data is a tool for professional medical guidance, not a substitute for it.
How common is this variant?
The rs1064796241 variant is noted as being common across various populations, appearing frequently in clinical variant databases.
Frequently asked questions
What is the PKP2 gene?
The PKP2 gene provides instructions for making plakophilin 2, a protein that helps form desmosomes in heart muscle cells. These structures are essential for keeping heart cells connected and functioning properly.
Is rs1064796241 a disease-causing variant?
The evidence for this specific variant is moderate, and its presence does not necessarily mean you have or will develop a condition. Clinical databases track many variants, and not all of them have a known impact on health.
Should I be worried if I have this variant?
Finding a variant in a database is not a medical diagnosis. If you have concerns about your heart health, you should discuss your genetic results with a doctor or a genetic counselor who can provide context based on your personal and family history.
Where can I find more information about my specific genetic results?
You can look up your variant in resources like ClinVar or speak with a healthcare professional. These experts can help you understand the clinical significance of your specific genetic findings.
Sources & further reading
Educational information only, last refreshed 10/8/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs1064796241?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29