ADAMTS13 rs387906343: What Your Genotype Means
The rs387906343 variant is a rare genetic alteration located within the ADAMTS13 gene. It is clinically associated with Upshaw-Schulman syndrome, a hereditary form of thrombotic thrombocytopenic purpura (TTP).
What each genotype means
Carrier of rare variant
This genotype indicates you carry one copy of the pathogenic insertion variant. While this variant is linked to Upshaw-Schulman syndrome, carriers typically do not exhibit the severe ADAMTS13 deficiency associated with the condition, as the disorder is generally inherited in an autosomal recessive pattern.
This genotype is extremely rare in the general population.
Increased risk of deficiency
This genotype indicates you carry two copies of the pathogenic insertion variant, which is associated with Upshaw-Schulman syndrome. This condition is characterized by a severe deficiency of the ADAMTS13 enzyme, which can lead to thrombotic thrombocytopenic purpura; please consult with a medical professional or genetic counselor to discuss these findings.
This genotype is exceptionally rare and is primarily identified in clinical settings among individuals diagnosed with hereditary thrombotic thrombocytopenic purpura.
Understanding the Variant and Its Location
The variant identified as rs387906343 is a specific change in the human genetic code located on chromosome 9. In scientific literature, this variant is often described as an insertion, specifically an extra adenine (A) nucleotide, which can alter the reading frame of the gene. It sits within the ADAMTS13 gene, which provides instructions for making an enzyme that plays a critical role in the blood clotting process. Because this variant is located in a region responsible for producing a functional protein, changes here can have significant biological consequences. Geneticists track such variants to understand how they contribute to rare, inherited health conditions. It is important to note that this variant is distinct from common polymorphisms found in the general population, as it is specifically linked to a rare, severe clinical phenotype.
The Role of the ADAMTS13 Gene
The ADAMTS13 gene encodes an enzyme known as ADAM metallopeptidase with thrombospondin type 1 motif 13. This enzyme acts like a pair of molecular scissors, specifically designed to cut von Willebrand factor (VWF), a large protein that helps blood platelets stick together to form clots. Under normal conditions, ADAMTS13 prevents VWF from becoming too long or sticky, which ensures that blood clots only form when and where they are needed. When the ADAMTS13 gene contains pathogenic variants, the body may produce an enzyme that is either missing, reduced in quantity, or non-functional. Without enough active ADAMTS13, VWF can accumulate in the bloodstream, leading to the formation of small, dangerous blood clots throughout the body's tiny vessels. This process is the underlying mechanism for the condition known as thrombotic thrombocytopenic purpura.
Research and Clinical Associations
Research has established a strong association between pathogenic variants in the ADAMTS13 gene and Upshaw-Schulman syndrome, also known as hereditary thrombotic thrombocytopenic purpura (TTP). This is an ultra-rare, autosomal recessive disorder, meaning an individual typically needs to inherit two copies of a pathogenic variant—one from each parent—to manifest the condition. Studies published in medical journals have documented various mutations within this gene that lead to severe ADAMTS13 deficiency. The evidence for the link between these specific genetic disruptions and the clinical presentation of TTP is considered robust in the context of rare disease research. Because the condition is life-threatening if left untreated, identifying these variants is a vital part of clinical diagnostics for patients presenting with unexplained clotting or low platelet counts.
Population Frequency and Prevalence
The rs387906343 variant is classified as rare. In the context of human genetics, 'rare' means that the variant is not found in the vast majority of the population. Because it is associated with a severe, recessive hereditary disorder, it does not reach high frequencies in the general gene pool. Most individuals do not carry this specific variant. When it is identified, it is usually in the context of clinical testing for patients who have already shown symptoms of TTP or have a family history of the condition. Because of its rarity, population-wide screening is not standard practice. If you have received a report indicating the presence of this variant, it is essential to discuss the findings with a medical geneticist or a hematologist who can interpret the results in the context of your personal and family health history.
Navigating Genetic Information
Genetic information regarding rare variants like rs387906343 is complex and should always be interpreted by a qualified healthcare professional. If you have questions about your genetic status, do not attempt to diagnose yourself or make changes to your health regimen based on online information. A clinician can help determine if a finding is clinically significant, explain the implications of being a carrier, and discuss whether further testing is necessary for you or your family members. Genetic counseling provides a safe space to understand the risks and benefits of genetic testing. Remember that having a genetic variant does not always guarantee the development of a disease, especially in recessive conditions where the presence of a second, healthy copy of the gene may provide protection. Always rely on personalized medical advice from your doctor.
How common is this variant?
The rs387906343 variant is extremely rare in the general population, with no significant frequency observed in large-scale genomic databases.
Frequently asked questions
What is Upshaw-Schulman syndrome?
Upshaw-Schulman syndrome is a rare, hereditary form of thrombotic thrombocytopenic purpura (TTP). It is caused by a deficiency of the ADAMTS13 enzyme, which leads to the formation of small blood clots in the body's small vessels.
Is rs387906343 a common genetic variant?
No, rs387906343 is considered a rare variant. It is not commonly found in the general population and is typically only identified in clinical settings.
What should I do if I have this variant?
If you have been identified as a carrier or have this variant, you should consult with a medical geneticist or a hematologist. They can provide a clinical assessment and explain what this means for your health.
Can I prevent TTP if I have this variant?
Management of hereditary TTP is handled by medical specialists. If you are at risk, your doctor will discuss appropriate monitoring and potential treatment strategies tailored to your specific clinical situation.
Sources & further reading
Educational information only, last refreshed 10/2/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs387906343?
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 — $29Related variants in ADAMTS13
This pathogenic variant is linked to Upshaw-Schulman syndrome, which can cause severe complications during pregnancy.
Variants in this gene are linked to protein activity levels that may impact dermal microvasculature and skin health.
A rare variant linked to specific phenotypic expressions in facial structure and connective tissue appearance.