Ask a Genetic Counselor: Genetic Testing and Variants of Uncertain Significance

Basser Center genetic counselor Jessica Ebrahimzadeh, MS, LCGC, discusses genetic testing and what it means to receive a variant of uncertain significance in your results.

[petersmartin]

Thanks for your Video. it's really helpful.

[MsGlass]

If a mother, daughter, granddaughter, 2nd cousin to mother, 1st cousin to mother all test for positive for a VUS of a disease they all have severe symptoms of, it would likely be that this variant is causing that gene to malfunction? Basically. if multiple family members (close and distant) all test for the same VUS and are all symptomatic for that specific disease, would this be a sign to reclassify as a positive ?

[QueenJessi]

My son is a carrier for nieman pick. Can he get the disease?
Also unknown significance on gria 3 I feel like he has symptoms. 😢

[jessirose]

This really wasn't helpful at it made me feel more distressed. Like how doctors will dance around a dying patient never really telling patients death is coming. Like talking around it.... like for example if someone asked you the color of you hair and you talked for 30 minutes about everything but the color.... I mean I understand how genetic testing works. But you gave no example of real life examples just basically gave a bunch of facts on how it likely won't effect someone.... what about the ones it does? What statistics do those people have? That would have been useful