Sugi Variant

Sugi Variant/RAC1

RAC1 — 98 ClinVar variants

All ClinVar germline RAC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →

9 Pathogenic · 6 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 5 Benign · 3 Benign/Likely benign · 13 Likely benign · 45 Uncertain significance

Full RAC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 29

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 lean, ClinVar uncertain 24

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

Predictors split 4

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

All RAC1 variants

Pathogenic 9

  • p.Asn26Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala159Thr Single submitter intellectual disability, autosomal dominant 48
  • p.Cys18Tyr Single submitter intellectual disability, autosomal dominant 48
  • p.Gln61Glu Single submitter intellectual disability, autosomal dominant 48
  • p.Glu62Lys Single submitter intellectual disability, autosomal dominant 48
  • p.Lys132Glu Single submitter
  • p.Ser41Phe Single submitter
  • p.Arg68Gly No assertion criteria intellectual disability, autosomal dominant 48
  • p.Arg68Ser No assertion criteria intellectual disability, autosomal dominant 48

Pathogenic/Likely pathogenic 6

  • p.Asn39Ser Multiple submitters Inborn genetic diseases
  • p.Pro73Leu Multiple submitters intellectual disability, autosomal dominant 48
  • p.Ser71Phe Multiple submitters intellectual disability, autosomal dominant 48
  • p.Tyr32His Multiple submitters intellectual disability, autosomal dominant 48
  • p.Tyr64Asp Multiple submitters intellectual disability, autosomal dominant 48
  • p.Val51Met Multiple submitters intellectual disability, autosomal dominant 48

Likely pathogenic 17

  • p.Arg66Ser Multiple submitters intellectual disability, autosomal dominant 48
  • p.Arg68Cys Single submitter RAC1-related disorder ⚠
  • p.Asn43Lys Single submitter intellectual disability, autosomal dominant 48
  • p.Asp57Glu Single submitter intellectual disability, autosomal dominant 48
  • p.Cys157Tyr Single submitter intellectual disability, autosomal dominant 48
  • p.Gly60Arg Single submitter intellectual disability, autosomal dominant 48
  • p.Leu160Pro Single submitter
  • p.Leu165Val Single submitter
  • p.Lys116Asn Single submitter
  • p.Pro50Leu Single submitter
  • p.Ter193Tyr Single submitter
  • p.Thr35Ala Single submitter
  • p.Trp56Cys Single submitter intellectual disability, autosomal dominant 48
  • p.Tyr64Cys Single submitter intellectual disability, autosomal dominant 48
  • p.Tyr64His Single submitter intellectual disability, autosomal dominant 48
  • p.Val51Leu Single submitter neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
  • p.Ser41Tyr No assertion criteria

Benign 5

Benign/Likely benign 3

  • p.Asp170= Multiple submitters
  • p.Leu165= Multiple submitters intellectual disability, autosomal dominant 48
  • p.Thr75= Multiple submitters

Likely benign 13

Uncertain significance 45