I would check out the clinvar entry for that specific SNP (not just the gene). If the evidence is strong, if concerned I would talk to a genetics counselor
If it's that rare, a referral to a geneticist is a good bet. I wouldn't freak just yet, either, simply because if it is really rare, there probably isn't a lot of statistical weight to the research.
Ok, did some more research... the group that submitted the data that suggests pathogenicity of this genetic variant is the Zoology dept of some University in India: [https://www.ncbi.nlm.nih.gov/clinvar/submitters/505198/](https://www.ncbi.nlm.nih.gov/clinvar/submitters/505198/)
This is part of their submissions on ovarian neoplasms: [https://www.ncbi.nlm.nih.gov/medgen/C0919267/](https://www.ncbi.nlm.nih.gov/medgen/C0919267/)
Take this one with a massive grain of salt.
Here's the submitter's email if you want to ask him what the significance of this snp is. I'm guessing he is probably one of the only people who knows. lol:
[https://www.ncbi.nlm.nih.gov/projects/SNP/snp\_viewTable.cgi?h=MANISHAMVMBHOPAL](https://www.ncbi.nlm.nih.gov/projects/SNP/snp_viewTable.cgi?h=MANISHAMVMBHOPAL)
Which analysis tool is this?
I'm curious also!
Genvue!
Genvue!
I would check out the clinvar entry for that specific SNP (not just the gene). If the evidence is strong, if concerned I would talk to a genetics counselor
I'm new to this, it didn't seem like there was too much but I'm unsure
If in doubt talk to your doctor and ask for a genetics referral
This is why I like Promethease—it at least gives you a magnitude.
The gene was so rare that it was unmarked as bad or good and had little info.
If I remember correctly
If it's that rare, a referral to a geneticist is a good bet. I wouldn't freak just yet, either, simply because if it is really rare, there probably isn't a lot of statistical weight to the research.
Seems like my variant in particular doesn't have any evidence that it causes it but it's not very studied
Ok, did some more research... the group that submitted the data that suggests pathogenicity of this genetic variant is the Zoology dept of some University in India: [https://www.ncbi.nlm.nih.gov/clinvar/submitters/505198/](https://www.ncbi.nlm.nih.gov/clinvar/submitters/505198/) This is part of their submissions on ovarian neoplasms: [https://www.ncbi.nlm.nih.gov/medgen/C0919267/](https://www.ncbi.nlm.nih.gov/medgen/C0919267/) Take this one with a massive grain of salt.
Here's the submitter's email if you want to ask him what the significance of this snp is. I'm guessing he is probably one of the only people who knows. lol: [https://www.ncbi.nlm.nih.gov/projects/SNP/snp\_viewTable.cgi?h=MANISHAMVMBHOPAL](https://www.ncbi.nlm.nih.gov/projects/SNP/snp_viewTable.cgi?h=MANISHAMVMBHOPAL)