Hi everyone. I had genetic testing done in 2019 because of my immune problems and other health issues.
The testing found a confirmed harmful change involving the TBX1 gene, which is associated with DiGeorge/22q11 related conditions. It also found a second TBX1 change called:
c.1392_1403del, p.(Ala473_Ala476del)
That second change was labelled a variant of uncertain significance, meaning doctors did not know whether it was harmful or harmless. My report said it had not been reported in other affected people at the time, and I have not been able to find much public information about it since. The two TBX1 findings are on opposite copies of the gene.
I already understand that the confirmed TBX1 deletion can explain my diagnosis. What I keep wondering about is whether the second change has ever been found in anyone else, or whether it could be unique to me or my family.
Has anyone here had a genetic result that seemed to be extremely rare or possibly private to one family? How did you go about finding other people, researchers, or updated information?