Sugi Variant

Sugi Variant/TCF7L2

TCF7L2 — 228 ClinVar variants

All ClinVar germline TCF7L2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 93 flagged for review →

7 Pathogenic · 1 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 1 Conflicting · 52 Benign · 2 Benign/Likely benign · 45 Likely benign · 109 Uncertain significance

Full TCF7L2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 93

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 73

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 19

The independent predictors disagree with each other — read with care.

All TCF7L2 variants

Pathogenic 7

Pathogenic/Likely pathogenic 1

  • p.Arg420Trp Multiple submitters TCF7L2-related neurodevelopmental disorder

Likely pathogenic 11

Conflicting classifications of pathogenicity 1

Benign 52

Benign/Likely benign 2

Likely benign 45

Uncertain significance 109