The paper describes the development of variant classification specifications for the VHL gene using ACMG/AMP guidelines, resulting in updated evidence codes and improved classification consistency.

Genetics in Medicine · May 1, 2026Peer-reviewedGenetic & Genomic Medicine

Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53

Cristina Fortuño, Marcy E. Richardson, Tina F. Pesaran, Kelly McGoldrick, Paul Andrew James, Amanda B. Spurdle

The paper identifies characteristics of TP53 variants with reduced penetrance using ClinVar data and a random forest model, finding they have intermediate function, higher frequency, and delayed disease onset.

Human Genetics and Genomics Advances · Jul 21, 2025Peer-reviewedGenetics

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

Cristina Fortuño, Kristy Lee, Magali Olivier, Tina F. Pesaran, Phuong L. Mai, Kelvin C. de Andrade, Laura Donatella Attardi, Stephanie B. Crowley, D. Gareth Evans, Bing Feng, Ann Katherine M. Foreman, Megan N. Frone, Robert Huether, Paul Andrew James, Kelly McGoldrick, , the ClinGen TP53 Variant Curation Expert Panel

The paper specifies TP53-specific ACMG/AMP variant classification guidelines, reducing variants of uncertain significance from 28% to 12%.

Human Mutation · Dec 10, 2020Peer-reviewedGenetic & Genomic Medicine