u/KaiG04

I recently had genetic testing done and there was a VUS on the genes below. Wondering if anyone has a similar experience with this particular variant and it having pathogenic expression? I can’t find any peer reviewed studies and all conclusions are conflicting.

COL1A2

C.2309C>T

p.Pro770Leu

and

ZNF469

c.4855G>A

p. Glu1619Lys

ZNF469

c.10199C>T

p.Pro3400Leu

Thanks!

( I am diagnosed with EDS through clinical criteria, this is just about this particular variant :) )