GBA1 rs387907168: Understanding This Rare Genetic Variant
The rs387907168 variant is a rare genetic change located within the GBA1 gene. It is studied for its potential association with Gaucher disease, a condition characterized by the body's inability to properly break down certain fatty substances.
What each genotype means
Typical genetic profile
This genotype represents the most common sequence found at this position in the general population. It is not associated with the specific clinical conditions linked to the variant allele.
This is the most common genotype observed across all major global populations.
Carrier status
Individuals with this genotype carry one copy of the variant allele. While this variant is linked to cortisone reductase deficiency 2 in a homozygous state, carriers typically do not exhibit the clinical features of the condition.
This genotype is very rare in the general population.
Associated with deficiency
This genotype is associated with cortisone reductase deficiency 2, a condition affecting how the body processes certain hormones. If you have this result, you should discuss the findings with a medical professional or genetic counselor to understand the clinical implications for your health.
This genotype is extremely rare and is not commonly found in the general population.
What is rs387907168?
The identifier rs387907168 refers to a specific single nucleotide polymorphism (SNP) located in the human genome. In genetics, a SNP represents a variation at a single position in a DNA sequence among individuals. This particular variant is situated within the GBA1 gene, which provides instructions for making an enzyme called glucocerebrosidase. Because this variant is classified as very rare, it is not commonly found in the general population. Researchers track such variants to understand how small changes in our DNA code can influence biological processes. When a variant is identified, scientists look at its location and potential impact on protein function to determine if it contributes to specific health traits or conditions. Understanding these variations is a fundamental part of modern genomic research, helping to map the diversity of the human genetic blueprint.
The Role of the GBA1 Gene
The GBA1 gene is essential for the production of the enzyme glucocerebrosidase. This enzyme is primarily responsible for breaking down a fatty substance called glucocerebroside into simpler sugars and fats within cells, specifically inside structures known as lysosomes. Lysosomes act as the recycling centers of the cell. When the GBA1 gene contains certain variants that reduce or eliminate the activity of this enzyme, glucocerebroside can accumulate to toxic levels within cells. This accumulation is the hallmark of Gaucher disease, an autosomal recessive lysosomal storage disorder. Because the gene is critical for cellular maintenance, variants that significantly disrupt its function are of high interest to medical researchers. By studying how different variants affect enzyme activity, scientists can better understand the spectrum of clinical symptoms associated with GBA1-related conditions.
Research and Clinical Associations
Research into GBA1 variants is extensive because of their clear link to Gaucher disease. Clinical validity assessments, such as those conducted by the ClinGen consortium, have classified the relationship between GBA1 and Gaucher disease as definitive. While many variants in this gene are well-documented, the specific impact of rare variants like rs387907168 is often determined through family studies and clinical observation of individuals who present with symptoms of the disease. Evidence strength for rare variants can be moderate to high depending on the amount of functional data available. It is important to note that the presence of a variant does not automatically guarantee a specific health outcome, as factors like inheritance patterns and the presence of a second variant on the other chromosome play a significant role in the development of recessive conditions.
Population Frequency and Distribution
The rs387907168 variant is characterized as very rare across global populations. In genetic studies, variants with such low frequencies are often identified in specific cohorts or families rather than being widespread across diverse ethnic groups. Because it is rare, it is not typically included in standard population-wide screening panels. The distribution of GBA1 variants can vary significantly based on ancestry, with some populations showing higher carrier rates for specific mutations due to historical and demographic factors. Researchers use large-scale databases like gnomAD to estimate how often these variants appear in the general population. For rare variants, the lack of widespread data means that our understanding of their frequency is constantly evolving as more individuals are sequenced and their genetic data is contributed to global research repositories.
Navigating Genetic Information
If you have received information about a GBA1 variant, it is important to approach it with the right context. Genetic variants are a natural part of human diversity, and most do not cause disease. For rare variants associated with metabolic conditions, the clinical significance is often complex and requires professional interpretation. You cannot use this information to diagnose yourself or others. If you are concerned about your genetic health or family history, the most appropriate step is to consult with a certified genetic counselor or a medical geneticist. These professionals can help interpret your results in the context of your personal and family health history. They can also explain the implications of carrier status and guide you through any necessary clinical testing or management strategies. Always rely on qualified healthcare providers for medical decisions.
How common is this variant?
The rs387907168 variant is very rare in the general population, with its frequency typically falling below the threshold expected for common genetic traits.
Frequently asked questions
What is Gaucher disease?
Gaucher disease is an inherited metabolic disorder caused by a deficiency of the enzyme glucocerebrosidase. This leads to the buildup of fatty substances in organs like the spleen, liver, and bone marrow.
Does having a GBA1 variant mean I have Gaucher disease?
Not necessarily. Gaucher disease is typically inherited in an autosomal recessive pattern, meaning an individual usually needs to inherit two pathogenic variants to develop the condition. A single variant may indicate carrier status.
How can I find out if I carry this variant?
Carrier status is typically determined through clinical genetic testing ordered by a healthcare provider. You should discuss the necessity and implications of such testing with a doctor or genetic counselor.
Is there a cure for GBA1-related conditions?
While there is no cure for the underlying genetic cause, there are effective treatments available, such as enzyme replacement therapy. Management is highly individualized and should be discussed with a specialist.
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 rs387907168?
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 GBA1
Also known as the N370S (p.Asn409Ser) mutation, this missense variant is a classic cause of Gaucher disease type 1 in homozygotes and significantly elevates Parkinson's disease risk in heterozygotes.
A variant in the GBA1 gene associated with Gaucher disease and increased risk for Parkinson's disease.
Pathogenic missense substitution (p.Leu483Pro / L444P) in GBA1 associated with Gaucher disease.
Pathogenic missense substitution (p.Asn409Ser) conferring carrier status for Gaucher disease type 1.
A pathogenic missense variant (p.Leu483Pro, legacy L444P) in GBA1 determining carrier status for Gaucher disease and acting as a susceptibility risk factor for Parkinson disease.
Pathogenic variant (c.84dupG) causing severe deficiency in glucocerebrosidase activity, associated with Gaucher disease.