Sugi Variant

Sugi Variant/RAC3

RAC3 — 72 ClinVar variants

All ClinVar germline RAC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →

2 Pathogenic · 2 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 2 Conflicting · 1 Benign · 21 Likely benign · 39 Uncertain significance

Full RAC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 34

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 26

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

Predictors split 7

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

All RAC3 variants

Pathogenic 2

  • p.Glu62Lys Multiple submitters neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
  • p.Glu62del No assertion criteria neurodevelopmental disorder with structural brain anomalies and dysmorphic facies

Pathogenic/Likely pathogenic 2

  • p.Asp63Asn Multiple submitters neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
  • p.Lys116Asn Multiple submitters RAC3-related disorder

Likely pathogenic 5

  • p.Tyr64Cys Multiple submitters neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
  • p.Asn92Lys Single submitter neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
  • p.Gly12Arg Single submitter neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
  • p.Pro29Arg Single submitter neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
  • p.Asp65Asn No assertion criteria RAC3-related disorder

Conflicting classifications of pathogenicity 2

  • p.Ala59Gly Single submitter neurodevelopmental disorder with structural brain anomalies and dysmorphic facies ⚠
  • p.Val93Ile Single submitter neurodevelopmental disorder with structural brain anomalies and dysmorphic facies ⚠

Benign 1

  • p.Ala159= No assertion criteria RAC3-related disorder

Likely benign 21

Uncertain significance 39