HEXA rs150645607: what the research says
This HEXA variant has been re-annotated as a pathogenic driver in late-onset Tay-Sachs disease, crucial for accurate carrier screening interpretation.
What each genotype means
Typical HEXA genotype
This genotype represents the most common genetic sequence found in the general population for this location in the HEXA gene. It is not associated with the pathogenic changes linked to late-onset Tay-Sachs disease. No specific clinical action is indicated based on this result.
This is the predominant genotype observed across all major global populations.
Potential HEXA variant carrier
This genotype indicates the presence of one copy of the rs150645607 variant, which has been identified as a pathogenic driver for late-onset Tay-Sachs disease. As this condition is inherited in an autosomal recessive manner, carriers typically do not exhibit symptoms but should consult with a genetic counselor or physician to discuss reproductive risks and family screening. The clinical significance of this specific variant is considered limited in some contexts, and its impact on enzyme activity may vary.
This genotype is rare in the general population but shows enrichment in individuals of Ashkenazi Jewish ancestry.
Increased risk for HEXA-related condition
This genotype indicates the presence of two copies of the rs150645607 variant, which is associated with late-onset Tay-Sachs disease. Individuals with this genotype may have reduced Hex A enzyme activity, which can lead to progressive neurological or muscular symptoms in adulthood. You should discuss these findings with a medical geneticist or specialist to determine if clinical evaluation or further diagnostic testing is appropriate.
This genotype is extremely rare and is primarily observed in specific populations with higher carrier frequencies for HEXA-related variants.
Rare; enriched in Ashkenazi Jewish ancestry
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This variant is a pathogenic mutation associated with carrier status for Tay-Sachs disease.
Pathogenic splice junction mutation (c.1421+1G>C / IVS12+1G>C) in HEXA leading to Tay-Sachs disease.
Pathogenic HEXA splice donor site mutation (c.1073+1G>A) causing Tay-Sachs disease, common in carrier screening panels for Ashkenazi Jewish and French Canadian ancestry.
This variant is a pathogenic mutation in the HEXA gene associated with carrier status for Tay-Sachs disease.
A 4-bp insertion (c.1278dupTATC, p.Tyr427IlefsTer5) in HEXA that accounts for over 70% of Tay-Sachs disease alleles in Ashkenazi Jewish carrier screening panels.
A canonical splice-donor variant (c.1421+1G>C) in HEXA resulting in absent functional beta-hexosaminidase A, representing a classical Tay-Sachs carrier allele.