O50: Fractional clues: Decoding NF1 variant pathogenicity through low variant allele fraction

Genetics in Medicine Open 2026 Open access

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Authors: Shoji Ichikawa, Timothy Komala, Meghan C. Towne
DOI: 10.1016/j.gimo.2026.104341
Cited by: 0

Abstract

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder. Low variant allele fraction (VAF) in NF1 variants is frequently observed in germline genetic testing using next-generation sequencing. Low VAF can result from biological phenomena such as post-zygotic mosaicism and clonal hematopoiesis, or from technical artifacts. In age-related clonal hematopoiesis, somatic pathogenic variants acquired during aging confer a selective advantage to hematopoietic stem cells, leading to the expansion of mutant clones.

Fields of Study & Subjects

Neurofibromatosis and Schwannoma Cases Genomics and Rare Diseases Cancer Genomics and Diagnostics

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104341–104341
Publication date
1 January 2026
Language
EN