Rationale and Comments

The common MTHFR gene variants, 677C>T and 1298A>G, are prevalent in the general population. Recent meta-analyses have disproven an association between the presence of these variants and venous thromboembolism.

Sponsoring Organizations

• American College of Medical Genetics and Genomics

Sources

• American College of Medical Genetics and Genomics guideline

Disciplines

• Genetic
• Hematologic

References

• Hickey SE, Curry CJ, Toriello HV. ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing. Genet Med. 2013 Feb;15(2):153-6.