Article

An integrated, scaled approach to resolve TSC2 variants of uncertain significance

2026-01-18

Abstract excerpt

Obtaining a precise genetic tuberous sclerosis diagnosis is a challenge as many missense TSC2 variants are variants of uncertain significance (VUS). VUS in TSC2 have been resolved by one-at-a-time functional assays, but these assays cannot scale to the 3,634 TSC2 missense VUS observed so far. To address this challenge, we used massively parallel sequencing to measure the steady-state abundance of almost 9,000...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: c3bff77f-e8cb-5726-9274-f640077ad0f0
DOI: 10.64898/2026.01.16.699909

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

An integrated, scaled approach to resolve TSC2 variants of uncertain significanceDOI 10.64898/2026.01.16.699909Read

Multimodal framework to resolve variants of uncertain significance in <i>TSC2</i>Semantic proximity Read

An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants.Semantic proximity Read

Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis ComplexSemantic proximity Read

Multiplex Assessment of Protein Variant Abundance by Massively Parallel SequencingSemantic proximity Read

Molecular Characterization of TSC1 and TSC2 Variants in a Greek Cohort of Tuberous Sclerosis Complex Patients.Semantic proximity Read

Determining the pathogenicity of variants of uncertain significance and identification of a founder variant in the epilepsy-associated gene, <i>SZT2</i>Semantic proximity Read

Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.Semantic proximity Read

Comprehensive analysis of non-synonymous single-nucleotide polymorphism of human TSC1 and TSC2 genes: an in silico approachSemantic proximity Read

Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.Semantic proximity Read

Genetics, genomics, and genotype–phenotype correlations of TSC: Insights for clinical practiceSemantic proximity Read

Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex.Semantic proximity Read

Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.Semantic proximity Read