Sugi Variant

Sugi Variant/AMOTL1

AMOTL1 — 164 ClinVar variants

All ClinVar germline AMOTL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 152 flagged for review →

3 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 1 Conflicting · 6 Benign · 5 Likely benign · 147 Uncertain significance

Full AMOTL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 152

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 2

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

Predictors lean, ClinVar uncertain 91

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

Predictors split 59

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

All AMOTL1 variants

Pathogenic 3

  • p.Arg157Cys Multiple submitters craniofaciocardiohepatic syndrome ⚠
  • p.Asn143Ser No assertion criteria craniofaciocardiohepatic syndrome ⚠
  • p.Glu579Lys No assertion criteria craniofaciocardiohepatic syndrome ⚠

Pathogenic/Likely pathogenic 1

  • p.Arg157His Multiple submitters craniofaciocardiohepatic syndrome ⚠

Likely pathogenic 1

Conflicting classifications of pathogenicity 1

Benign 6

Likely benign 5

Uncertain significance 147