Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations.

Laëtitia MeulemansStéphanie Baert DesurmontMarie-Christine WaillGaia CastelainAudrey KillianJulie HauchardThierry FrebourgFlorence CouletAlexandra MartinsMartine MulerisPascaline Gaildrat

Published in: Journal of medical genetics (2022)

Altogether, these data demonstrate that MSH2 function is intolerant to in-frame indels caused by the spliceogenic variants analysed in this study, supporting their pathogenic nature. This work stresses the importance of combining complementary RNA and protein approaches to ensure accurate clinical interpretation of in-frame spliceogenic variants.

Keyphrases

copy number
protein protein
amino acid
high resolution
machine learning
big data
artificial intelligence
genome wide
deep learning