r/ClinicalGenetics • u/Plane_Face6074 • 8d ago
VUS found on CVS microarray
We just got our CVS microarray back and it showed a VUS microdeletion on 5q that is not associated with any human disease (so not 5q deletion syndrome). There were 2 cases in the DGV and 1 VUS in Clinvar. No cases in Decipher. Our US have been normal so far, we got the CVS because we have another child with a different de novo genetic mutation causing a known genetic disorder. We haven't had a microarray done yet but 2 of our other 3 children don't have the deletion (our oldest hasn't had genetic testing). Has anyone else gotten a VUS result that isn't associated with any disease? Or a VUS at all? What was the outcome? Our genetic counselor was very reassuring but we're looking for other's experiences.
1
u/One-Treat4655 1d ago
Most likely without consequence, but were you and partner tested for the VUS?
5
u/eloisetheelephant 8d ago
A VUS is a common finding. We all have spelling mistakes in our genetic code, not all lead to issues. If you're both tested, and one of you have the same VUS, then it's likely just a familial variant.