What is a variant of unknown clinical significance?

A “variant of uncertain significance” (VUS) is a genetic change whose impact on the individual’s cancer risk is not yet known. Everyone’s genes are slightly different. Some genetic changes (variants) do not affect the gene’s function and therefore do not increase cancer risk.

What are clinically significant variants?

A general term for a variant that affects a drug response, not a disease. We anticipate adding more specific drug response terms based on a recommendation by CPIC. association. For variants identified in a GWAS study and further interpreted for their clinical significance.

Is a variant of unknown significance a mutation?

When the changes are harmful, they may lead to medical problems. Genes tell our bodies how to work properly, and a harmful mutation may stop a gene from doing its job. Some people, like you, have a Variant of Uncertain Significance (VUS) which is a genetic change that the laboratory cannot interpret.

What does uncertain clinical significance mean?

A variant of uncertain clinical significance (VUS) is a DNA change that is not yet fully understood. The VUS may be unique or may have been found in other individuals or families. Sometimes a lot of work may have been done to determine the effect of that specific DNA change.

What does a variant classified as a VUS mean?

(or unknown) significance
A variant of uncertain (or unknown) significance (VUS) is a genetic variant that has been identified through genetic testing but whose significance to the function or health of an organism is not known.

How do you classify variants?

The American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG-AMP) system for variant classification is score based with five classes: benign, likely benign, variant of unknown significance (VUS), likely pathogenic, and pathogenic.

What is variant interpretation?

Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties | Genetics in Medicine.

How do you know if a variant is pathogenic?

These criteria include the following attributes:

  1. the frequency of the variant in affected and unaffected individuals.
  2. the segregation of the variant within families.
  3. whether the variant is a new mutation in an individual affected by a highly penetrant condition.
  4. functional characteristics of the variant.

Should VUS be reported?

Rather than providing-specific recommendations about whether VUS should be reported or not, guidelines issued by professional bodies generally state that laboratories should have clearly documented protocols for the reporting of VUS to clinicians [7–10].

What is an unknown variant in genetic testing?

A variant of uncertain (or unknown) significance (VUS) is a genetic variant that has been identified through genetic testing but whose significance to the function or health of an organism is not known.

What are pathogenic variants?

Listen to pronunciation. (PA-thoh-JEH-nik VAYR-ee-unt) A genetic alteration that increases an individual’s susceptibility or predisposition to a certain disease or disorder.

What is a variant in science?

(VAYR-ee-unt) An alteration in the most common DNA nucleotide sequence. The term variant can be used to describe an alteration that may be benign, pathogenic, or of unknown significance.