Unknown function

Alleles with unknown bio-chemical consequence

There are at least three kind of alleles that have unknown-biochemical function

• Known PGx alleles that are classified with unknown functional status by PharmGKB
• Alleles with variants that cause changes to the protein, but which are not classified by PharmGKB
• Alleles with variants that do not cause changes to the protein, and which are not classified by PharmGKB

In the CPIC guidelines, some PGx alleles have unknown bio-chemical functional status. The dosing recommendation for such patients is to follow the normal medication advice. There are PGx-alleles that are classified with bio-chemical function, and otherwise, all patients without a known PGx-allele match also have unknown function.

Alleles with normal bio-chemical consequence

The bio-chemical function varies for all patients, and Normal function just means that the functional status is sufficiently close to the mean that the normal medication recommendation can be used.