Sugi Variant

Sugi Variant/CTNND1

CTNND1 — 255 ClinVar variants

All ClinVar germline CTNND1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 180 flagged for review →

19 Pathogenic · 16 Likely pathogenic · 3 Conflicting · 13 Benign · 1 Benign/Likely benign · 20 Likely benign · 183 Uncertain significance

Full CTNND1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 180

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 agree, ClinVar conflicts 2

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 100

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

Predictors split 78

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

All CTNND1 variants

Pathogenic 19

Likely pathogenic 16

  • c.1722+2T>G Single submitter blepharocheilodontic syndrome 2
  • p.Ala693fs Single submitter blepharocheilodontic syndrome 2
  • p.Arg858Ter Single submitter blepharocheilodontic syndrome 2
  • p.Cys394Arg Single submitter
  • p.Cys450_Asp451delinsTer Single submitter blepharocheilodontic syndrome 2
  • p.Gln563Ter Single submitter blepharocheilodontic syndrome 2
  • p.Glu745Ter Single submitter blepharocheilodontic syndrome 2
  • p.His913fs Single submitter blepharocheilodontic syndrome 2
  • p.Ser169Ter Single submitter blepharocheilodontic syndrome 2
  • p.Ser675fs Single submitter blepharocheilodontic syndrome 2
  • p.Trp336Ter Single submitter blepharocheilodontic syndrome 2
  • p.Asp499Gly No assertion criteria Cleft lip with or without cleft palate ⚠
  • p.Glu367fs No assertion criteria CTNND1-related disorder
  • p.Glu818Ter No assertion criteria CTNND1-related disorder
  • p.Trp696Cys No assertion criteria Cleft lip with or without cleft palate
  • p.Tyr302fs No assertion criteria CTNND1-related disorder

Conflicting classifications of pathogenicity 3

Benign 13

Benign/Likely benign 1

Likely benign 20

Uncertain significance 183