GNB1 rs758432471: Understanding This Rare Genetic Variant
The rs758432471 variant is a rare genetic change located within the GNB1 gene. It has been identified in clinical research as a pathogenic variant associated with global developmental delay and muscular hypotonia.
What each genotype means
Typical genetic profile
This is the common, reference genotype for this position in the GNB1 gene. It is not associated with the clinical conditions linked to the rare variant at this location.
This is the most common genotype observed in the general population.
Heterozygous carrier status
This genotype indicates the presence of one copy of the rare T allele. Research has linked this specific variant to conditions such as global developmental delay and muscular hypotonia, though clinical significance can vary and should be discussed with a medical professional.
This genotype is rare in the general population.
Rare variant homozygous
This genotype represents the homozygous state for the rare T allele, which has been identified in clinical databases as potentially pathogenic. It is associated with reports of global developmental delay and muscular hypotonia, and individuals with this result should consult with a genetic counselor or clinician to understand its clinical relevance.
This genotype is extremely rare in the general population.
What is rs758432471?
The rs758432471 variant is a specific change in the human DNA sequence, technically classified as a single-nucleotide polymorphism (SNP). It is located on chromosome 1 at position 1806513 (GRCh38). In this specific location, the standard genetic code typically features a cytosine (C) base. However, in individuals carrying this variant, a thymine (T) base is present instead. This change is categorized as rare, meaning it is not commonly found in the general population. Because it occurs within the GNB1 gene, it has the potential to alter the instructions the body uses to build specific proteins, which is why it is a subject of interest in clinical genetics and rare disease research.
The Role of the GNB1 Gene
The GNB1 gene provides instructions for making a protein called G protein subunit beta 1. This protein is a critical component of G proteins, which act as molecular switches inside cells. These switches help transmit signals from the outside of the cell to the inside, influencing various cellular processes such as growth, movement, and communication. Because G proteins are involved in so many fundamental biological functions, particularly within the nervous system, changes to the GNB1 gene can have significant impacts on development. When a variant like rs758432471 alters the structure or function of this protein, it can disrupt these essential signaling pathways, potentially leading to the clinical features observed in individuals with this specific genetic change.
Clinical Associations and Evidence
Research documented in clinical databases, such as ClinVar, classifies the rs758432471 variant as pathogenic. This classification is based on evidence linking the variant to specific clinical presentations, including global developmental delay and muscular hypotonia (low muscle tone). The evidence strength for this association is considered moderate to high in the context of clinical diagnostic testing, as it has been identified in individuals presenting with these specific neurodevelopmental symptoms. It is important to note that while this variant is associated with these conditions, the field of genetics is complex. The presence of a variant does not always guarantee a specific outcome, and clinical interpretation often requires a comprehensive evaluation by a medical professional who can consider the patient's full medical history and other genetic factors.
Population Frequency
The rs758432471 variant is classified as a rare variant. In genomic studies, rare variants are those that appear at a very low frequency across the general population. Because it is not a common polymorphism, it is not typically found in large-scale population screening panels used for general ancestry or trait reporting. Its presence is usually identified through targeted clinical sequencing when a patient presents with symptoms that warrant investigation into rare genetic conditions. Due to its rarity, there is limited data regarding its distribution across different global ancestral groups, and it is primarily documented in clinical settings rather than general population health studies.
Navigating Genetic Information
If you or a family member have received information about this variant, it is essential to understand that this is a clinical finding that requires expert interpretation. Genetic information can be complex, and the impact of a variant can vary based on many factors. You cannot use this information to self-diagnose or make medical decisions. If this variant was identified through a clinical test, you should discuss the results with a genetic counselor or a medical geneticist. They can provide context regarding what this means for your health or the health of a family member. If you are concerned about symptoms like developmental delay or muscle tone issues, please consult your primary care physician or a specialist to discuss appropriate diagnostic steps and management strategies.
How common is this variant?
The rs758432471 variant is a rare genetic change with a very low frequency in the general population, typically identified only in clinical diagnostic contexts.
Frequently asked questions
Is rs758432471 a common genetic variant?
No, rs758432471 is considered a rare variant. It is not commonly found in the general population and is typically only identified during clinical genetic testing.
What does it mean if I have the T allele for rs758432471?
The T allele is associated with pathogenic clinical findings in the GNB1 gene. If you have this result, you should consult with a medical geneticist or a qualified healthcare provider to understand its clinical significance for your specific situation.
Can I use this information to diagnose a condition?
No. Genetic variants must be interpreted by medical professionals in the context of a patient's full clinical presentation. Never use genetic data to self-diagnose or make medical decisions.
Where can I find more information about GNB1 variants?
You can search clinical databases like ClinVar or consult resources like MedlinePlus Genetics for information on genes and their associated conditions. Always prioritize information from reputable medical and scientific institutions.
Sources & further reading
Educational information only, last refreshed 10/4/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs758432471?
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
This missense variant is included in updated polygenic hazard models for prostate cancer risk stratification.
This variant in the IL2/IL21 locus shows genome-wide significant association with ulcerative colitis.
This variant acts as a hub gene marker associated with Th17 immune responses and hypo-inflammation in critically ill trauma patients.
An intronic regulatory variant in the LPP gene strongly associated with serum allergen-specific IgE levels and allergic rhinitis susceptibility.
A well-replicated intronic polymorphism in LPP associated with multi-allergen sensitization, including cat dander, dust mites, and grass pollen.
This intronic variant in the CASP8 gene is linked to prostate cancer risk assessment models.