P092: Refining somatic variant classification: A single-institution evaluation of the 2022 ClinGen/CGC/VICC oncogenicity guidelines

Genetics in Medicine Open 2026 Open access

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Authors: Christina K. Ferrone, Yi Liu, Valerie Zgonc, Svetlana Pack, Liqiang Xi, Jung‐Hyun Kim, Manoj Tyagi, Kathleen Calzone, Ina Lee, Jeffrey Gagan, Stephen M. Hewitt, Frederic G. Barr
+1 more Mark A. Raffeld
DOI: 10.1016/j.gimo.2026.103583
Cited by: 0

Abstract

The 2022 ClinGen/CGC/VICC oncogenicity guidelines (SOP) provide a structured framework for somatic variant classification. However, their implementation in clinical labs may reveal areas where rigid rule-based systems diverge from expert interpretation, particularly for disease-specific or context-dependent variants. We are conducting a prospective evaluation of concordance between SOP-based classification and ABP-certified molecular genetic pathologist (MGP) interpretation, with the aim of identifying areas of systematic discordance that may help refine future guideline iterations.

Fields of Study & Subjects

Genomics and Rare Diseases BRCA gene mutations in cancer Cancer Genomics and Diagnostics

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103583–103583
Publication date
1 January 2026
Language
EN