12th edition of my human genetics textbook


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Glenn Nichols, surrounded by his hospice team. The author is in yellow.

Genetic Linkage

What’s a “Variant of Uncertain Significance?” A VUS?

May 5, 2018

Tags: VUS, variant of uncertain significance

(NHGRI)
Seven words someone taking a genetic test doesn’t want to hear:

“You have a variant of uncertain significance.” A VUS.

Instead of a yes or no answer – a gene has a mutation or it doesn’t – a VUS is a “not the usual, but we don’t know if it’s harmful.” A maybe.

But like a typo to just one letter on a page, single DNA base substitutions in a gene’s sequence might not alter the meaning of the encoded protein. This can happen as a change:

• of one three-base codon to another that specifies the same amino acid
• to a similarly-shaped amino acid
• in a part of the protein that’s not essential to it’s function.

Each of us has thousands of variants of uncertain significance, but we don’t know about them unless we take a genetic test. A VUS in a member of a family riddled with certain types of cancer can be stressful, especially if a surgical decision rests on genetic test results.

Misinterpretations can have tragic consequences. (more…)

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