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I Tested Positive For “FACTOR VII R353Q MUTATION” The Follow
Question: I tested positive for “FACTOR VII R353Q MUTATION”
The follow interpretation was written in the report. “This individual is positive for one copy of
the p.R353Q variant in the Factor VII gene. Heterozygosity
for the p.R353Q variant is associated with reduced plasma
FVII levels and may be associated with a reduced risk for
myocardial infarction.”
Can this please be interpreted for me as to what I am dealing with?
The follow interpretation was written in the report. “This individual is positive for one copy of
the p.R353Q variant in the Factor VII gene. Heterozygosity
for the p.R353Q variant is associated with reduced plasma
FVII levels and may be associated with a reduced risk for
myocardial infarction.”
Can this please be interpreted for me as to what I am dealing with?
Brief Answer:
This mutation likely does not have a clinically significant effect
Detailed Answer:
Hello, I'm Dr. Branch, thanks for using 'Ask a Doctor'. Genotyping is still a new field and research is still in the early stages with many of the findings, so things may change in the future in terms of what risks or protection certain mutations may give to a particular patient. Many people will have several mutations that may give certain risks or benefits, or may not make a clinically significant different in someone's health. In your case, the Factor VII R353Q mutation has been shown to decrease the production of a protein called Factor VII that helps with blood clotting. It has been supposed that this mutation decreases this protein just enough so that it can reduce the risk for clotting in the coronary arteries, which would lead to a reduced risk for heart attacks (or myocardial infarctions). There may be some studies that have shown this, but the ones I could found have concluded that this mutation actually does not make any difference.
So in summary, there has been a hypothesis that the mutation you have may give some protection against heart attacks, but the research is still not clear on this and at this point it looks like it probably doesn't make any difference. However, it has not shown any harms as well, so it is just one of many mutations that don't make a difference in terms of your health.
I hope that helps, please let me know if you have any other questions about that, and I would be glad to discuss it with you further.
This mutation likely does not have a clinically significant effect
Detailed Answer:
Hello, I'm Dr. Branch, thanks for using 'Ask a Doctor'. Genotyping is still a new field and research is still in the early stages with many of the findings, so things may change in the future in terms of what risks or protection certain mutations may give to a particular patient. Many people will have several mutations that may give certain risks or benefits, or may not make a clinically significant different in someone's health. In your case, the Factor VII R353Q mutation has been shown to decrease the production of a protein called Factor VII that helps with blood clotting. It has been supposed that this mutation decreases this protein just enough so that it can reduce the risk for clotting in the coronary arteries, which would lead to a reduced risk for heart attacks (or myocardial infarctions). There may be some studies that have shown this, but the ones I could found have concluded that this mutation actually does not make any difference.
So in summary, there has been a hypothesis that the mutation you have may give some protection against heart attacks, but the research is still not clear on this and at this point it looks like it probably doesn't make any difference. However, it has not shown any harms as well, so it is just one of many mutations that don't make a difference in terms of your health.
I hope that helps, please let me know if you have any other questions about that, and I would be glad to discuss it with you further.
Note: Do you have more questions on diagnosis or treatment of blood disorders? Ask An Expert/ Specialist Now
Above answer was peer-reviewed by :
Dr. Saisudha Kotla
Answered by
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