Alpha-1-antitrypsin deficiency

Diagnosis and Testing

What does it mean to have inherited a "variant" or "variant of unknown significance" in the gene for alpha-1 antitrypsin deficiency?

A variant of unknown significance (VUS) means that, from genetic testing, there is a change in spelling of the DNA in your SERPINA1 gene. This is the gene associated with alpha-1 antitrypsin deficiency (AATD). However, but it is not known yet whether that DNA variant causes AATD in people or not. Some DNA variants are harmless and do not cause disease, such as those that cause eye color or hair color changes. If you have been found to have a VUS from genetic testing, check back with your doctor or genetic counselor later to see if more information becomes known. As DNA variants are better understood over time and scientists find more people with them, your variant may be reclassified and your result may have a clearer meaning.

Alpha-1 at MUSC: A shared voice for patient empowerment. Retrieved from

Alpha-1 Antitrypsin Deficiency. GeneReviews. Retrieved August 28, 2017 from

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