Understanding rs374319146: A Rare Genetic Variant
The variant rs374319146 is a rare genetic change located within the TBCK gene. It has been identified in clinical studies in association with specific developmental and physical conditions, though it remains a subject of ongoing research.
What each genotype means
Typical genetic profile
This genotype represents the most common form of this genetic location observed in the general population. Current scientific research has not established a specific clinical or trait-related impact for this configuration. As this is a rare variant, this result is considered a baseline observation.
This is the most frequent genotype observed across global populations.
Rare variant carrier
You carry one copy of the rare allele at this location. Because this variant is rare and currently lacks definitive clinical validation, the functional significance of carrying this specific genotype remains uncertain. Further research is required to determine if this variant influences any specific biological traits.
This genotype is rare and found at a very low frequency in global population databases.
Rare variant homozygous
You carry two copies of the rare allele at this location. While this variant is documented in genomic studies, it is currently classified as having uncertain significance, meaning there is not enough evidence to link this genotype to a specific health outcome or trait. Please consult with a healthcare professional if you have specific concerns about your health.
This genotype is extremely rare and is observed in a very small fraction of the population.
What is rs374319146?
The identifier rs374319146 refers to a specific single nucleotide polymorphism (SNP) located on chromosome 4. In the context of human genetics, a SNP represents a variation at a single position in the DNA sequence. This particular variant is found within the TBCK gene, which provides instructions for making a protein involved in various cellular processes. Because this variant is classified as rare, it is not typically found in the general population at high frequencies. Geneticists and researchers track such variants to understand how specific changes in the DNA code might influence biological functions or contribute to clinical presentations. When a variant is identified, it is cataloged in databases like dbSNP to allow scientists worldwide to reference the same location and study its potential impact on human health.
The Role of the TBCK Gene
The TBCK gene, or TBC1 Domain Containing Kinase, plays a critical role in cellular signaling and development. The protein produced by this gene is involved in regulating pathways that control cell growth and the organization of the cell's internal structure. Because of its involvement in these fundamental biological processes, mutations or variants within the TBCK gene can have significant effects on development. Research into this gene has highlighted its importance in the nervous system and muscle function. When the function of the TBCK protein is altered, it may disrupt normal developmental trajectories. Understanding the gene's normal function is essential for researchers attempting to determine how specific variants, such as rs374319146, might lead to the clinical features observed in individuals carrying these genetic changes.
Research and Clinical Associations
Clinical databases, including ClinVar, have documented associations between rs374319146 and several clinical features. These include reports of global developmental delay, muscular hypotonia, seizures, and characteristic facial features. It is important to note that the evidence strength for these associations is considered moderate, and the variant is often studied in the context of rare, inherited conditions. The presence of this variant in clinical literature often stems from studies investigating the genetic basis of infantile-onset conditions with psychomotor retardation. Because this is a rare variant, the scientific community continues to gather data to better understand the penetrance and expressivity of these associations. As with all genetic findings, these associations are based on statistical observations in specific cohorts and do not imply a universal outcome for every individual who may carry the variant.
Interpreting Genetic Information
For individuals who encounter this variant in genetic reports, it is vital to understand that genetic information is complex and often requires professional interpretation. A variant being 'rare' means it is not a common feature of the human genome, and its presence does not automatically indicate a specific health outcome. Genetic testing results should always be discussed with a qualified healthcare provider, such as a genetic counselor or a medical geneticist, who can place the findings in the context of an individual's personal and family medical history. You cannot use this information to self-diagnose or predict future health outcomes without clinical validation. If you have concerns about your genetic health or the implications of a specific variant, please consult with a clinician who can provide guidance based on the most current clinical standards and your unique health profile.
How common is this variant?
The variant rs374319146 is classified as rare, meaning it occurs at a very low frequency across global populations.
Frequently asked questions
Is rs374319146 a common genetic variant?
No, rs374319146 is considered a rare variant. It is not frequently observed in the general population compared to common SNPs.
What does it mean if I have this variant?
Finding this variant does not provide a diagnosis. You should discuss any genetic findings with a healthcare professional or genetic counselor who can interpret the results in the context of your health.
Where can I find more information about TBCK-related conditions?
You can search resources like MedlinePlus Genetics or the OMIM database for information on genes and associated conditions. Always rely on peer-reviewed medical literature for accurate information.
Does this variant cause disease?
The variant has been associated with certain clinical features in research studies. However, the impact of a variant can vary, and clinical validation is required to understand its significance for an individual.
Sources & further reading
Educational information only, last refreshed 10/2/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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