ENLIS decoding mitochondria related genes...lost!

[pattismith]

I am still baffled as to what is going on in regards to my CFH gene (complement factor H). Promethease shows me as homozygous for rs800292, but Enlis does not report this snp at all ,and instead shows me as homozygous for rs1061170. ??? Both of these variants are well studied and are well known to confer elevated ARMD risk so each site would be expected to report these variants if I indeed had both.
Th
e only thing I can think is that one of the sites is reading the raw data incorrectly, but which one?

I ran my CFH gene in both Enlis and Promethease and found the same result for the rs1061170 (heterozygous).
For rs800292 Promethease gave me (C;C), but ENLIS doesn't show it.

However, ENLIS show me another missense mutation on rs1065489 that doesn't show on Promethease.

 

[Valentijn]

rs1061170

This one is flagged as pathogenic, whereas the other is not, plus it has a bigger risk factor which is better researched and understood.

 

[TrixieStix]

I ran my CFH gene in both Enlis and Promethease and found the same result for the rs1061170 (heterozygous).
For rs800292 Promethease gave me (C;C), but ENLIS doesn't show it.

However, ENLIS show me another missense mutation on rs1065489 that doesn't show on Promethease.

I finally found rs1061170 on my Promethease. Brain fart! I am homozygous for rs1061170, but in the case of this SNP it is beneficial to be so. Good to know that Enlis isn't reporting rs800292 for you either. For some reason they left that one out of their software it seems...weird. It is a well studied variant. Thanks for letting me know it isn't showing up for you either.

 

[TrixieStix]

@pattismith @Valentijn

I think I've possibly figured out why rs800292 (CFH gene) is reported by Promethease, but not Enlis. It may be one of the 500 plus high-impact SNPs that Enlis thinks 23andme is misreporting thus why it's not in our Enlis report.

http://www.enlis.com/blog/2015/10/2...te-snps-with-high-impact-in-23andme-raw-data/

 

[voner]

@TrixieStix,

Did you find anywhere where Enlis has made available a list of those 23andme errors/misreporting?

 

[TrixieStix]

@TrixieStix,

Did you find anywhere where Enlis has made available a list of those 23andme errors/misreporting?

I have just sent Enlis a message asking if there is a list of them available.

 

[Paralee]

My rare one is on MT-ND1 as well, at position 3796. It's been implicated in causing mitochondrial disease, though the strength of the evidence isn't very good.

@Valentijn , mine at that position doesn't show anything for me, it's blank. There's nothing saying it can't tell or hasn't been phenotyped or anything. Does that happen often?
Edit..... I have two listed with that location, one has an rs # and the one that doesn't show my type is an I #.

 

[pattismith]

It's very interesting, I can see that for my 4 rare missense mtDNA mutations, the allele frequency is 0.00%...I don't think I will ever know their real significance!
View attachment 23584

I finally got my mother's datas from 23andme, and it shows exactly the same 4 missense mutations in her mitochondrial DNA....

it means that I have probably a genetical mito disease, and that all my cells are affected by it....

It would well explain why my CFS/ME came progressively from the teenage, why I crashed any time I tryed to push, why I couldn't tolerate stress...

It doesn't explain my Low T3 syndrome, nor my low CD8, so I have not solved all the mystery of my health, but I now know why I struggled so much, why I had so many drug reactions, etc.

 

[kelly8]

good detective work!

 

[Jenny TipsforME]

finally got my mother's datas from 23andme, and it shows exactly the same 4 missense mutations in her mitochondrial DNA....

I’m just going through these threads about mitochondrial stuff. Does your mum have mitochondria related symptoms? You would expect almost all your M variants to be the same as your mum, whether or not they’re causing problems. It is also possible to acquire mutations later in life or have de novo mutations which occur new with the individual though, as you probably know (so de novo are possibly more relevant than having the same variants if no relatives have related symptoms).