This conceptual framework reinterprets genetic variants in hereditary angioedema, highlighting their clinical implications.
Variants of uncertain significance (VUS) in SERPING1 represent a persistent challenge in the clinical interpretation of hereditary angioedema (HAE). Current classification approaches often treat SERPING1 dysfunction as a binary phenomenon, insufficiently accounting for the dynamic regulation of the kallikrein–bradykinin pathway. Here, we propose a threshold-based conceptual model in which SERPING1 variants may act as subclinical destabilizers within a metastable regulatory system, contributing to variable clinical expressivity without producing overt loss of function. This work does not provide clinical reclassification of VUS nor functional validation. Rather, it offers a mechanistic lens to reinterpret genetic ambiguity in HAE and to guide hypothesis generation and experimental prioritization.
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Umberto Mentana (2026) studied this question.
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