GBA1 rs76711674: Understanding This Splice-Site Variant
The rs76711674 variant is a specific change in the GBA1 gene that affects how the body processes the enzyme glucocerebrosidase. It is primarily studied as a marker for Gaucher disease carrier status, particularly within Ashkenazi Jewish populations.
What each genotype means
Typical enzyme activity
This genotype represents the most common genetic sequence for this region of the GBA1 gene. Individuals with this profile do not carry the specific splice-site variant associated with Gaucher disease carrier status at this location.
This is the most common genotype found in the vast majority of the global population.
Gaucher disease carrier
This genotype indicates you carry one copy of the rs76711674 variant, which is a splice-site mutation in the GBA1 gene. Carriers are generally asymptomatic but may have an increased risk for developing Parkinson's disease or parkinsonism later in life compared to the general population. You should discuss your carrier status with a genetic counselor or your healthcare provider, especially if you are planning a family.
This genotype is found in approximately 0.2% of the Ashkenazi Jewish population and is considered rare in most other ancestral groups.
Potential Gaucher disease risk
This genotype indicates that both copies of your GBA1 gene contain this splice-site variant. Having two copies of a pathogenic GBA1 variant is associated with Gaucher disease, a lysosomal storage disorder with highly variable clinical symptoms. Please consult with a medical geneticist or specialist to discuss the clinical implications and potential for disease manifestation.
This genotype is extremely rare in the general population.
What is the rs76711674 Variant?
The rs76711674 variant is a genetic alteration located within the GBA1 gene. In genetic terminology, this is classified as a splice-site variant. Splice sites are critical regions of DNA that act as instructions for the cell to correctly assemble the messenger RNA (mRNA) that codes for proteins. When a variant occurs at a splice site, it can disrupt the normal splicing process, potentially leading to the production of a faulty or non-functional protein. Specifically, this variant is sometimes referred to in literature as c.84dupG or c.1263del+1G>A, depending on the nomenclature system used. Because it interferes with the gene's ability to produce the enzyme glucocerebrosidase, it is monitored in clinical settings to determine if an individual carries a genetic change that could be passed to their children.
The Role of the GBA1 Gene
The GBA1 gene provides the blueprint for an enzyme called glucocerebrosidase. This enzyme is essential for the function of lysosomes, which are the recycling centers of our cells. Glucocerebrosidase is responsible for breaking down a fatty substance called glucocerebroside into simpler sugars and fats. When the GBA1 gene contains pathogenic variants, the enzyme may be absent or significantly reduced in activity. This leads to the accumulation of fatty substances in various cells, particularly macrophages, which can cause the symptoms associated with Gaucher disease. Beyond Gaucher disease, research has increasingly focused on the role of GBA1 in neurological health, as reduced enzyme activity has been identified as a significant genetic risk factor for Parkinson's disease in some individuals.
Research and Clinical Evidence
The evidence linking rs76711674 to clinical outcomes is currently categorized as limited. While GBA1 variants as a group are well-established as the cause of Gaucher disease—an autosomal recessive condition—the specific impact of every individual variant can vary. Clinical geneticists use this information to assess carrier status, which is important for family planning. It is important to note that carrying a single variant in GBA1 does not mean an individual has Gaucher disease, but it does mean they are a carrier. Furthermore, while some GBA1 variants are associated with an increased risk of developing Parkinson's disease, the clinical significance of specific rare variants like rs76711674 is still being investigated. Researchers continue to use large-scale databases to better understand how these specific genetic changes correlate with long-term health outcomes.
Population Frequency
The frequency of the rs76711674 variant is not uniform across all human populations. It is most frequently observed in individuals of Ashkenazi Jewish descent, where the carrier rate for various GBA1 mutations is approximately 1 in 14. In contrast, this specific variant is considered rare in other global populations. Because genetic variants are often ancestry-specific, the clinical relevance of a test result can depend heavily on an individual's ethnic background. Genetic counselors often use this population-specific data to provide context during the interpretation of genetic screening results, helping individuals understand the likelihood of being a carrier based on their heritage.
Navigating Your Genetic Information
If you have received information about your status regarding the rs76711674 variant, it is essential to approach this data with the help of a qualified healthcare professional. Genetic information is complex, and a single variant does not provide a complete picture of your health. You cannot use this information to diagnose yourself or predict future health outcomes with certainty. If you are concerned about your carrier status or potential health risks, consult with a genetic counselor or your primary care physician. They can help you interpret these results in the context of your personal and family medical history. Never make changes to your medical care or lifestyle based solely on a genetic report without professional guidance.
How common is this variant?
The rs76711674 variant has a frequency of approximately 0.002 in the Ashkenazi Jewish population and is considered rare in other populations.
Frequently asked questions
What does it mean to be a carrier of a GBA1 variant?
Being a carrier means you have one copy of a gene variant that is associated with a recessive condition like Gaucher disease. Carriers typically do not show symptoms of the disease themselves but can pass the variant to their children.
Is rs76711674 the same as having Gaucher disease?
No, carrying a single variant like rs76711674 does not mean you have Gaucher disease. Gaucher disease is typically an autosomal recessive condition, meaning it usually requires inheriting two pathogenic variants, one from each parent.
Should I be worried about Parkinson's disease if I have this variant?
While some GBA1 variants are linked to an increased risk of Parkinson's disease, the evidence for any single rare variant can be limited. You should discuss your specific genetic report and family history with a neurologist or genetic counselor to understand your personal risk profile.
How can I find out if my partner is also a carrier?
If you are concerned about passing a variant to your children, you and your partner can speak with a genetic counselor. They can facilitate carrier screening to determine if both parents carry variants in the same gene.
Sources & further reading
Educational information only, last refreshed 9/23/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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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.
A pathogenic variant (p.Asn409Ser, formerly N370S) in GBA1 associated with Gaucher disease and increased risk for Parkinson disease.