Sugi Variant

Sugi Variant/GNAI3

GNAI3 — 101 ClinVar variants

All ClinVar germline GNAI3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →

2 Pathogenic · 2 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 1 Conflicting · 10 Benign · 2 Benign/Likely benign · 24 Likely benign · 56 Uncertain significance

Full GNAI3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 54

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 1

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

Predictors lean, ClinVar uncertain 41

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

Predictors split 12

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

All GNAI3 variants

Pathogenic 2

  • p.Glu216Ter Single submitter auriculocondylar syndrome 1
  • p.Ser47Arg No assertion criteria auriculocondylar syndrome 1

Pathogenic/Likely pathogenic 2

  • p.Gly40Arg Multiple submitters auriculocondylar syndrome 1
  • p.Ser47Asn Multiple submitters auriculocondylar syndrome 1

Likely pathogenic 4

Conflicting classifications of pathogenicity 1

Benign 10

Benign/Likely benign 2

Likely benign 24

Uncertain significance 56