MTHFR Gene Defect Survey of ME patients

[SWAlexander]

Mine shows as G;G. On two reports that I have it's colored in green which I think means normal with no problems. Does that sound right?

Green means no problem, grey is a possibility and red - malfunction.
If you would like to get deeper, check with NIH- Reports, "clinical significance" (click on the blue lked numbers)
Example: https://www.ncbi.nlm.nih.gov/snp/rs1801131?horizontal_tab=true#clinical_significance

 

[SWAlexander]

I certainly don't have the C677T mutation, but there is a huge chunk of the MTHFR gene missing despite the 30x sequencing. So I don't really know if it's a deletion or a gap. I don't think it's a deletion though, because it's just too large of a piece. I guess something affected the MTHFR in both saliva samples.

example:
rs1801131(C;C) Number of risks. Complex. MTHFR rs1801131 is involved in converting 5-methylfolate (5MTHF) to tetrahydrofolate (THF). Unlike MTHFR C677T, this mutation does not lead to elevated homocysteine levels.

 

[nerd]

example:
rs1801131(C;C) Number of risks. Complex. MTHFR rs1801131 is involved in converting 5-methylfolate (5MTHF) to tetrahydrofolate (THF). Unlike MTHFR C677T, this mutation does not lead to elevated homocysteine levels.

This one was covered by 23andme v3 and an older AncestryDNA test, so I don't have to rely on the FGS from Nebula. I'm (A;A).

 

[SWAlexander]

This one was covered by 23andme v3 and an older AncestryDNA test, so I don't have to rely on the FGS from Nebula. I'm (A;A).

I see. I had a second DNA in Jan. 2021 (first in 2009) and I discovered quite a few changes.
Either more methylation or new science results.