Genetic Testing & Rare AutoInflammatory Disorders: What You Need to Know About the Benign Variant Report
This information is not in reference to whole exome sequencing (known as WES) This is in reference to genetic panels that may be done, for example Periodic Fever Panel.
When dealing with rare conditions like AutoInflammatory Diseases, every clue matters.
One often overlooked piece? The benign variant report.
This report is different from the main results your doctor receives. It includes variants the lab considers benign or likely benign—and sometimes even VUS (variants of uncertain significance) that aren’t shown on your main report anymore. Labs may call this the "full variant report." Or “benign variant report” You won’t get it unless you specifically ask for it.
In fact, some labs in Australia and New Zealand will not supply it at all and you may need to ask for specific information. Which if you don’t know what to ask for, will be even more problematic.
Why does this matter?
Some variants that are marked "benign" might actually play a role in disease—especially if they’re low penetrance variations. That means they might cause symptoms in some people, but not others (e.g., a parent with no symptoms passes a variant to a child who does have symptoms).
We’ve seen conflicting lab/research opinions on several common AutoInflammatory gene variants.
One of the most common being for Familial Mediterranean Fever (FMF) - MEFV E148Q
Points to keep in mind:
- Genetics is just one piece of the diagnostic puzzle
- It is a tool for discussion with your doctor.
- It’s not always a diagnosis.
- A variant alone doesn't mean you (or your child) have a condition. Symptoms, labs, and clinical judgment must align.
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