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Article

'Missing' disease-causing variants in Alport syndrome.

Nature reviews. Nephrology - 1 Jul 2026

Savige Judy, Bournazos Adam M, Horinouchi Tomoko, Thompson Bryony A, Zhang Yanqin, Hoefele Julia, Huang Mary

Abstract excerpt

Up to 20% of people with clinically suspected Alport syndrome do not have a disease-causing variant identified with genetic testing. Disease-causing changes are 'missing' because the identified variant is of uncertain significance or no suspicious change has been found. A variant of uncertain significance might be resolved after a clinician-laboratory consultation, family segregation studies, functional assays,...

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PMID: 41813856
DOI: 10.1038/s41581-026-01061-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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