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A novel TERT variant associated with a telomere biology disorder and challenges in variant classification
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A novel TERT variant associated with a telomere biology disorder and challenges in variant classification
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A novel TERT variant associated with a telomere biology disorder and challenges in variant classification
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Journal Article
A novel TERT variant associated with a telomere biology disorder and challenges in variant classification
2025
Overview
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.
