Systematic use of protein free energy changes for classifying variants of uncertain significance: the case of IFT140 in Mainzer-Saldino Syndrome

Our findings demonstrate that ΔΔG analysis can effectively distinguish potentially pathogenic variants in IFT140, enabling confirmation of MSS. The established cut-off of -1.3 kcal/mol showed strong discriminative power, aiding in the reclassification of VUS identified in IFT140. This approach highlights the utility of protein stability predictions in resolving diagnostic uncertainty in rare diseases.

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Journal
Frontiers in Molecular Biosciences
Published
2025-04-23
DOI
https://doi.org/10.3389/fmolb.2025.1561380
Primary Topic
RNA regulation and disease
Type
article
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article

Systematic use of protein free energy changes for classifying variants of uncertain significance: the case of IFT140 in Mainzer-Saldino Syndrome

Ignacio Castro, Paola M. Krall, Macarena Gajardo, Víctor Faúndes et al.
Frontiers in Molecular Biosciences
RNA regulation and disease
article

Systematic use of protein free energy changes for classifying variants of uncertain significance: the case of IFT140 in Mainzer-Saldino Syndrome

Ignacio Castro, Paola M. Krall, Macarena Gajardo, Víctor Faúndes, Esperanza Bayyad, J. Luis Guerrero, Jorge Maturana, Jaime Tobar, Bárbara Poblete
article en

Abstract

Our findings demonstrate that ΔΔG analysis can effectively distinguish potentially pathogenic variants in IFT140, enabling confirmation of MSS. The established cut-off of -1.3 kcal/mol showed strong discriminative power, aiding in the reclassification of VUS identified in IFT140. This approach highlights the utility of protein stability predictions in resolving diagnostic uncertainty in rare diseases.

Frontiers in Molecular BiosciencesVol. 12
Austral University of Chile (CL), Hospital Luis Calvo Mackenna (CL), Hospital Regional de Arica Doctor Juan Noé Crevani (CL), Hospital San Borja Arriarán (CL), University of Chile (CL)
Openalex Percentile: Top 92%
RNA regulation and disease
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Systematic use of protein free energy changes for classifying variants of uncertain significance: the case of IFT140 in Mainzer-Saldino Syndrome — Ignacio Castro, Paola M. Krall, et al. · Frontiers in Molecular Biosciences (2025) | TGRS Research Map | TGRS