Mutation in COL3A1

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Hi guys,

I found out today I have the Mutation of the COL3A1 gene used to confirm a diagnosis of Vascular EDS. Does this mean anything on its own ? Should I look into further testing?

Apparently the frequency of this allele Mutation in the population is only 6 % :(. Am I jumping the gun here to be worried ?

I don't have hypermobilty but my sister does; no visible veins but my mother does; I've sublaxed my shoulder about 8 times leading to eventual surgery. I have slightly stretchy skin but it's not fragile. I also have the facial features of Vascular EDS....

I am worried lol.
 

alicec

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I found out today I have the Mutation of the COL3A1 gene used to confirm a diagnosis of Vascular EDS. Does this mean anything on its own ? Should I look into further testing?
First check the accuracy of the claim about the genetic variant.

Here is the OMIM entry which details known pathogenic SNPs.

Here is a review of clinical and genetic features of the condition. The diagnosis appears to be made on a clinical basis.
 
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Thanks, you guys are awesome :).

@Valentijn What do you mean which specific mutation. I'm very new to this. I've attached a pic of my 23andme results. I appear to be homozygous (A;A).
 
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@JamieS I couldn't upload on my phone. But the Gene is rs1800255, associated with pelvic organ prolapse and EDS.

No significance in pelvic organ prolapse found in the heterozygous group.
 

Valentijn

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@JamieS I couldn't upload on my phone. But the Gene is rs1800255, associated with pelvic organ prolapse and EDS.
The minor allele for that SNP is extremely common, at 32%. It's also marked as benign, meaning it doesn't cause disease. Either its association with EDS is quite minor, or it's a false positive from substandard research.
 
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The minor allele for that SNP is extremely common, at 32%. It's also marked as benign, meaning it doesn't cause disease. Either its association with EDS is quite minor, or it's a false positive from substandard research.
I'm using promethease and the heterozygous polymorphism A;G is listed as benign. A;A has a 6% frequency. G;G is normal. Am I reading this wrong ?
 

Valentijn

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I'm using promethease and the heterozygous polymorphism A;G is listed as benign. A;A has a 6% frequency. G;G is normal. Am I reading this wrong ?
All three versions are benign: AA, AG, or GG. A is the minor allele, with a frequency of 32%, which means approximately 10% of people are homozygous for AA, 44% are heterozygous, and 46% are homozygous for GG. The site you listed is probably using outdated prevalence data from a much smaller and more limited group of people.
 

alicec

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Curious at to where are you getting the info that COL3A1 is benign ?
COL3A1 is the gene and no-one is doubting that variants in this gene are associated with EDS type IV.

Not all variants are a problem however and the one you are concerned about, rs1800255, is characterised as benign - not something you should worry about.

It's always a good idea to check any variants of concern with reputable databases. OMIM has good summaries for genes and various conditions plus you can search for any particular rs number on dbSNP. Here is the entry for your SNP.

Here you can check which allele is ancestral and which is the variant, you will find up to date prevalence data (MAF or minor allele frequency), links to studies on the SNP (PubMed), info on the status of the SNP (it is listed as benign with a link to ClinVar to see the basis of the classification), plus a lot more.
 
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brenda

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I have tried to understand what is written here, but cannot make out what GG on rs 180255 means. I would be very grateful if anyone can answer this thanks.