RARS rs672601373: Understanding This Genetic Variant
The genetic variant rs672601373 is located within the RARS gene. It has been identified in research as a pathogenic variant associated with hypomyelinating leukodystrophy type 9, a rare neurological condition.
What each genotype means
Typical genetic profile
This is the common, wild-type genotype for this position in the RARS gene. Individuals with this genotype do not carry the specific variant associated with hypomyelinating leukodystrophy type 9.
This is the most common genotype found in the general population.
Carrier of rare variant
This genotype indicates the presence of one copy of the T allele, which is a known pathogenic splice-site mutation (c.45+1G>T) associated with hypomyelinating leukodystrophy type 9. Because this condition is typically inherited in a recessive manner, carriers of a single copy are generally not expected to manifest the disease, though they may pass the variant to their offspring.
This genotype is extremely rare in the general population.
Associated with leukodystrophy risk
This genotype indicates the presence of two copies of the T allele, which is a pathogenic splice-site mutation (c.45+1G>T) in the RARS gene. This variant has been identified in individuals diagnosed with hypomyelinating leukodystrophy type 9, a rare neurological condition. Please consult with a medical geneticist or healthcare provider to discuss these findings in the context of your clinical history.
This genotype is exceptionally rare and is not typically observed in the general population.
What is rs672601373?
The identifier rs672601373 refers to a specific single nucleotide polymorphism (SNP) located on chromosome 5. In the human genome, this variant is situated within the RARS gene, which provides instructions for making a protein essential for cellular function. Genetic variants like this one represent a change in a single "letter" of the DNA sequence. While many such variations are harmless, some can alter the function of the resulting protein. Researchers track these specific locations to understand how they contribute to human health and disease. This particular variant is documented in major genomic databases, which serve as catalogs for scientists studying the relationship between DNA sequences and clinical outcomes.
The Role of the RARS Gene
The RARS gene, also known as RARS1, encodes an enzyme called arginyl-tRNA synthetase. This enzyme plays a fundamental role in protein synthesis, the process by which cells build the proteins they need to survive and function. Specifically, it helps attach the amino acid arginine to the correct transfer RNA (tRNA) molecule. This step is critical for ensuring that the genetic code is translated accurately into functional proteins. Because protein synthesis is a universal requirement for all cells, the RARS gene is highly conserved across different species. Disruptions in this process can have widespread effects, particularly in tissues that are highly sensitive to protein production errors, such as the central nervous system.
Research and Clinical Associations
Scientific literature and clinical databases, such as ClinVar, classify rs672601373 as a pathogenic variant. It is specifically linked to hypomyelinating leukodystrophy type 9 (HLD9). This is a rare, autosomal recessive neurological disorder characterized by the abnormal development of myelin, the protective sheath that surrounds nerve fibers in the brain and spinal cord. Individuals with this condition may experience developmental delays, muscle stiffness (spasticity), tremors, and intellectual disability. The evidence for this association is derived from clinical reports of individuals presenting with these symptoms who were found to carry mutations in the RARS gene. Because the condition is autosomal recessive, it typically requires an individual to inherit a pathogenic variant from both parents to manifest the clinical features of the disease.
Population Frequency and Prevalence
Hypomyelinating leukodystrophy type 9 is an extremely rare condition, with a prevalence estimated at less than 1 in 1,000,000 individuals. Because the disease is so rare, the specific variant rs672601373 is not commonly found in the general population. Most large-scale genomic studies do not record high frequencies for this variant, as it is primarily identified in clinical settings when investigating the cause of specific neurological symptoms. There is currently no broad population-level data that suggests this variant is common across diverse ancestral groups. Its presence is generally limited to families or individuals who have been clinically diagnosed with or are being screened for RARS-related disorders.
What This Information Means for You
If you have received information about this variant, it is important to understand that genetic testing results should always be interpreted by a qualified healthcare professional, such as a genetic counselor or a medical geneticist. This variant is associated with a serious, rare condition, and its presence does not automatically imply a diagnosis. Clinical diagnosis requires a comprehensive evaluation of symptoms, medical history, and physical examinations. If you are concerned about your genetic status or family history, you should consult with a clinician who can provide context based on your specific situation. Never use genetic data to make independent medical decisions or to self-diagnose. A professional can help you understand the implications of your results and guide you toward appropriate clinical resources.
How common is this variant?
This variant is extremely rare in the general population, with no significant frequency data recorded in large-scale genomic databases.
Frequently asked questions
What is hypomyelinating leukodystrophy type 9?
It is a rare genetic neurological disorder that affects the development of myelin in the brain, leading to symptoms like developmental delay and muscle stiffness.
Is rs672601373 a common genetic variant?
No, it is not common. It is a rare variant primarily identified in clinical contexts related to specific neurological conditions.
What should I do if I have this variant?
You should consult with a genetic counselor or a medical geneticist. They can help you understand what the result means in the context of your personal and family health history.
Does having this variant mean I have a disease?
Not necessarily. Genetic variants are only one piece of the puzzle. A clinical diagnosis requires a professional evaluation of your symptoms and medical history.
Sources & further reading
Educational information only, last refreshed 10/3/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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