Start here
Makes an enzyme that helps produce a form of folate used in the processing of homocysteine. Common variants are different from rare variants that cause severe MTHFR deficiency.
Connections in the Purser reference
The reference groups this subject with: Folate metabolism, Methylation, Homocysteine regulation, Transsulfuration, PCOS, Insulin/glucose regulation, Hormone metabolism, MCAS, Histamine, Mast cell signaling. These are teaching connections, not a diagnosis or a measured effect in your body.
Understanding a result
A gene name is not a test result. Interpretation needs the exact variant, genotype, test method, clinical classification, symptoms and family history. Research associations and common SNPs should not be treated as proven disease-causing findings.
Folate, B12 and next steps
Folate, B12 and homocysteine may be part of a broader discussion. Symptoms and a common MTHFR variant do not establish a methylfolate requirement or a personalized dose.
Questions for your visit
Is this a common marker, a pathogenic variant, or an uncertain finding? Does it change my care? Would confirmation or genetic counseling be useful?
Variant IDs in the source reference
These identifiers help you find the associated teaching. Their inclusion is not verification of a gene–variant mapping, disease classification or treatment implication. Use your laboratory’s exact result and a current clinical interpretation.
Names you may see
Methylenetetrahydrofolate Reductase · C677T · A1298C · folate · homocysteine
Sources & perspective
This is an editorial adaptation of the Purser Wellness genetics teaching app and genetic rules reference (v2.8). Purser teaching connections are labeled separately from clinical interpretation. Private cases and individual treatment protocols are not reproduced.
Use the public resources below for additional context.
MedlinePlus: MTHFRMedlinePlus: understanding genetic resultsNCBI ClinVar: clinical classifications
