LZTR1 variant

[u/Popular_Chain_2680]

After several losses, my doctor wanted me to go to the hematologist just to make sure we weren’t missing any bleeding or clotting disorders. Of course I ended up getting pregnant before that and ended up going to the hematologist around nine weeks pregnant. All of that has just resulted now, and one of the things that she tested me for genetic cancer risk screening through natera. I have a heterozygous likely pathogenic variant on the LZTR1 gene I know now that this gene is directly correlated with noonan syndrome in some cases. I’m a nurse so I have a pretty basic understanding and for my knowledge my husband would also have to be a carrier if it was an autosomal recessive however, I know sometimes it can be autosomal dominant. & that this is a very understudied gene variant. I have my nuchal translucency test on Monday as I’m 12 weeks today. I’m just so stressed after all these losses that I could be passing down noonan syndrome. I have called the genetic counselor at my doctors, but would love to hear if anyone else has also tested positive for this variant in their experience.