A novel TERT variant associated with a telomere biology disorder and challenges in variant classification

Pazhakh, Vahid, Fox, Lucy C., Den Elzen, Nicole, Emerson, Matthew R., Cohen, Scott B., Bryan, Tracy M., Norris, Kevin, Baird, Duncan M. ORCID: https://orcid.org/0000-0001-8408-5467, Cochrane, Tara, Mackintosh, John, Scott, Ashleigh and Blombery, Piers 2025. A novel TERT variant associated with a telomere biology disorder and challenges in variant classification. eJHaem 6 (1) , e1066. 10.1002/jha2.1066

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Abstract

Telomere biology disorders (TBDs) are inherited conditions associated with multisystem manifestations. We describe clinical and functional characterisation of a novel TERT variant. Whole-genome sequencing was performed along with single telomere length analysis (STELA). Telomerase activity and processivity were assessed. A novel TERT variant (K710R) was detected in a patient with classic TBD features showing reduced telomerase activity and processivity. Despite clinical and functional evidence, the variant was classified as a variant of uncertain significance. We have described a novel TERT variant and highlighted the need for further refinement of variant classification specific for TBDs.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine
Publisher:	Wiley
ISSN:	2688-6146
Funders:	Medical Research Future Fund
Date of First Compliant Deposit:	26 November 2024
Date of Acceptance:	21 December 2024
Last Modified:	05 Feb 2025 14:50
URI:	https://orca.cardiff.ac.uk/id/eprint/174301

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