Article

Pathogenicity assessment of a TSC2 c.2966+1G>A splice site variant in vaginal adenocarcinoma

2026-01-16

Abstract excerpt

<h4>ABSTRACT</h4> Clinical sequencing of a vaginal adenocarcinoma specimen yielded a reported TSC2 variant which was classified as splice-modulating loss-of-function, prompting consideration of a clinical trial for tumors with TSC2 loss. Literature review suggested that germline alterations affecting this particular exon are considered non-pathogenic, raising concern about the initial somatic variant interpretati...

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Literature Corpus work: 1e3137f8-cf28-5249-81fe-419a3e1cc2e8
DOI: 10.64898/2025.12.31.25343109

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