Last Updated: June 8, 2019

Definition - What does MTHFR A1298C mean?

MTHFR A1298C is a mutation or polymorphism of the Methylenetetrahydrofolate reductase (MTHFR) gene. MTHFR is a gene that provides instructions for making an enzyme that converts an amino acid, homocysteine, into a chemical called methionine, which plays a vital role in the development and maintenance of DNA and is essential for cellular function. This mutation prevents the conversion of those chemicals. MTHFR is also an important enzyme in the metabolism of folic acid and is crucial for reproductive function.

While it is theorized that MTHFR A1298C may contribute to health complications, including subfertility and negative pregnancy outcomes, there is limited research to confirm this.

FertilitySmarts explains MTHFR A1298C

Data from a study published in 2016 suggests the 1298C allele is significantly overrepresented in women who have had multiple unsuccessful assisted reproductive technology (ART) treatments.

In addition, MTHFR 1298C, may be associated with missing chromosomes (aneuploidy) leading to miscarriage, but usually doesn't result in elevated homocysteine levels unless the person also has one copy of another mutation called MTHFR 677T.

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