CeGaT Introduces Regular Re-evaluation of Variants of Uncertain Significance (VUS)

CeGaT’s VUS re-evaluation reassesses previously reported variants of uncertain clinical significance (VUS) as soon as new scientific evidence on the pathogenicity of the variant is available. This leads to an even higher number of diagnoses made by CeGaT.

Variants of uncertain clinical significance (VUS) are one of the five classes defined by the American College of Medical Genetics and Genomics (ACMG) for the interpretation of genetic variants. A variant is classified as VUS if, at the time of examination, it cannot be determined whether it is pathogenic or benign.

Genetic research is making great progress and is constantly improving our knowledge of disease-causing variants. This makes it likely that, over time, a VUS will be better understood and classified as pathogenic (“probably pathogenic” / “pathogenic”) or benign (“probably benign” / “benign”).

In the event of such a VUS re-evaluation, CeGaT proactively informs the treating physicians. In addition, the re-evaluated variant is interpreted by our specialists with reference to the clinical picture of the patient and a revised medical report is issued.

The re-evaluation is very relevant for the care and treatment of patients and family members. CeGaT’s VUS reclassification is available from now on. The service is free of charge and is offered for 5 years from the date of the initial medical report. Further information on the service can be found here. If you have any questions, please do not hesitate to contact our team at sales@cegat.de.