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Diseases

Genetic and Rare Diseases Information Center (GARD)

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MTHFR gene mutation

*

* Not a rare disease

Other Names for this Disease

  • Methylenetetrahydrofolate reductase mutation
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Your Question

I just found out I also have a MTHFR homozygous A1298C mutation. (the C677T mutation was NOT detected.) What does the combination of these two mutations mean for treatment and further testing recommendations?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What does having two copies of the A1298C mutation mean for treatment and further testing recommendations?

Two copies of A1298C are not typically associated with increased homocysteine levels. A mutation in the A1298C gene typically only causes health problems if a person's other gene copy has a mutation in the C677T gene.[1] We recommend you discuss with your doctor if further testing is recommended.
Last updated: 1/22/2014

References
Other Names for this Disease
  • Methylenetetrahydrofolate reductase mutation
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.