Genetic Disorders Expert Forum
a1298c mutation
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a1298c mutation

Hello,
My mother was just recently dx with A1298c Mutation. Please explain this to me? what causes it? Is it genetic? I have 2 boys myself and can I or my boys get it. She has had 2 strokes already and that is how they found it through a neuologist.

Thanks, confused
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The A1298C gene variant is found in the MTHFR gene. This gene produces an enzyme that is important in the metabolism of homocysteine, an amino acid.

We all have two copies of the MTHFR gene, one from each parent. People with one copy of the A1289c gene variant are referred to as heterozygous. People with two copies of the A1289C gene variant are referred to as homozygous. Having two variants/mutations, such as A1298C, can cause elevated homocysteine levels.

MTHFR deficiency, in the presence of elevated homocysteine levels, has been associated with a variety of health issues including an increased risk for venous thromboembolism (the formation of a blood clot in a vein), early onset cardiovascular disease, and adverse pregnancy outcomes including fetal growth restriction, preeclampsia, miscarriage and placental abruption. However, these risks may not be increased in the presence of normal homocysteine levels. A blood test can be performed that measures plasma homocysteine levels.

We recommend that you meet with a genetic counselor who can review your personal and family history as well as discuss the genetics and inheritance of MTHFR deficiency. You can find a genetic counselor at the National Society of Genetic Counselors website or through companies like mine, AccessDNA. We wish you the best.
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A related discussion, MTHRF, A1289C heterozygous; VWF; TSH was started.
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