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Article

Reclassification of variants of uncertain significance in type I collagen genes: a national reference laboratory experience.

Journal of medical genetics - 20 Apr 2026

Supari Nurhaziqah, Baker Duncan, Keigwin Sylvia, Delaney Sophie, Makino Seiko, Balasubramanian Meena

Abstract excerpt

BACKGROUND: The availability of large volumes of data from genetic testing has enabled the interpretation of more DNA variants, contributing to a greater number of identified variants of uncertain significance (VUS). The growing number of VUS causes a burden of inconclusive findings in clinical practice. Osteogenesis imperfecta (OI) is a genetically heterogeneous connective tissue disorder causing bone fragility...

Topics

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Collagen Type I
Collagen Type I, alpha 1 Chain
Genetic Testing
Genetic Variation
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Osteogenesis Imperfecta

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Identifiers

PMID: 41667232
DOI: 10.1136/jmg-2025-111334

Genes

COL1A1
COL1A2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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