Sugi Variant

Sugi Variant/CTNND2

CTNND2 — 357 ClinVar variants

All ClinVar germline CTNND2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 168 flagged for review →

4 Pathogenic · 10 Likely pathogenic · 8 Conflicting · 87 Benign · 13 Benign/Likely benign · 75 Likely benign · 160 Uncertain significance

Full CTNND2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 168

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

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 2

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, 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 93

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

Predictors split 71

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

All CTNND2 variants

Pathogenic 4

Likely pathogenic 10

Conflicting classifications of pathogenicity 8

Benign 87

Benign/Likely benign 13

Likely benign 75

Uncertain significance 160