SLC35A2 VUS
My son and I have a variant of unknown significance on the X chromosome. This gene variation can cause significant problems, and if males have a highly pathogenic gene they do not make it in utero. This disease is incredibly rare, with about 100 worldwide and a few cases of inheritance. My son has symptoms of the disease, which is why we sought genetics (and every specialist for his symptoms). The geneticist said “it looks like a duck, it quacks like a duck”, and he has symptoms and the variant in some models leans towards pathogenic, but put out a letter for doctors to not consider it in their treatment plans as it is a VUS. Yes, other VUS genes can be researched and found to be pathogenic or benign, but this variant has been reported once before in one database I found, and it’s already incredibly rare with only a handful of doctors and researchers. Being such a significant gene that I have a 50/50 of passing on and my son has a 100% chance of giving it to any female heirs, this feels like it’s irresponsible to not consider it? Also, we’ve hit a dead end in finding a cause of my son’s symptoms and it actually could be helpful to contextualize his symptoms. If this was a random gene I’d let it go, but a heritable X chromosome mutation is rather significant. Should we just forget about it unless the geneticist calls and says it’s been recategorized?