Sugi Variant

Sugi Variant/GNAO1

GNAO1 — 587 ClinVar variants

All ClinVar germline GNAO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 160 flagged for review →

42 Pathogenic · 13 Pathogenic/Likely pathogenic · 41 Likely pathogenic · 31 Conflicting · 36 Benign · 22 Benign/Likely benign · 226 Likely benign · 176 Uncertain significance

Full GNAO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 160

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 22

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 102

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

Predictors split 35

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

All GNAO1 variants

Pathogenic 42

  • c.723+1G>A Multiple submitters early-infantile DEE
  • p.Arg209Cys Multiple submitters neurodevelopmental disorder with involuntary movements
  • p.Arg209His Multiple submitters early-infantile DEE
  • p.Gln52Arg Multiple submitters early-infantile DEE
  • p.Gly203Arg Multiple submitters GNAO1-related disorder
  • p.Gly40Trp Multiple submitters early-infantile DEE
  • p.Gly42Arg Multiple submitters early-infantile DEE
  • p.Ile344del Multiple submitters early-infantile DEE
  • p.Ser47Asn Multiple submitters developmental and epileptic encephalopathy, 17
  • p.Tyr231Cys Multiple submitters GNAO1-related disorder
  • c.465-53_*122del Single submitter developmental and epileptic encephalopathy, 17
  • c.723+1G>T Single submitter
  • p.Asn242Thr Single submitter
  • p.Asn270His Single submitter early-infantile DEE
  • p.Asn270Lys Single submitter developmental and epileptic encephalopathy, 17
  • p.Asp174Gly Single submitter developmental and epileptic encephalopathy, 17
  • p.Asp201Val Single submitter early-infantile DEE
  • p.Gln52Pro Single submitter early-infantile DEE
  • p.Glu246Lys Single submitter
  • p.Gly203Glu Single submitter
  • p.Gly204Arg Single submitter developmental and epileptic encephalopathy, 17
  • p.Gly45Ter Single submitter early-infantile DEE
  • p.Ile254fs Single submitter early-infantile DEE
  • p.Leu199Pro Single submitter early-infantile DEE
  • p.Leu284Ser Single submitter developmental and epileptic encephalopathy, 17
  • p.Lys211Gln Single submitter early-infantile DEE
  • p.Lys271Asn Single submitter early-infantile DEE
  • p.Lys278del Single submitter early-infantile DEE
  • p.Lys46Glu Single submitter early-infantile DEE
  • p.Ser135fs Single submitter early-infantile DEE
  • p.Ser207Tyr Single submitter
  • p.Ser44Pro Single submitter early-infantile DEE
  • p.Thr171fs Single submitter developmental and epileptic encephalopathy, 17
  • p.Tyr168Asp Single submitter early-infantile DEE
  • p.Tyr74Asp Single submitter
  • c.723+2T>A No assertion criteria neurodevelopmental disorder with involuntary movements
  • p.Arg209Gly No assertion criteria neurodevelopmental disorder with involuntary movements
  • p.Glu246Gly No assertion criteria neurodevelopmental disorder with involuntary movements
  • p.Gly40Ala No assertion criteria developmental and epileptic encephalopathy, 17
  • p.Ile279Asn No assertion criteria developmental and epileptic encephalopathy, 17
  • p.Ser6Ile No assertion criteria developmental and epileptic encephalopathy, 17
  • p.Thr191_Phe197del No assertion criteria developmental and epileptic encephalopathy, 17

Pathogenic/Likely pathogenic 13

  • c.724-8G>A Multiple submitters early-infantile DEE
  • p.Ala227Val Multiple submitters genetic developmental and epileptic encephalopathy
  • p.Arg206Leu Multiple submitters early-infantile DEE
  • p.Arg209Leu Multiple submitters early-infantile DEE
  • p.Glu217Lys Multiple submitters early-infantile DEE
  • p.Glu237Lys Multiple submitters early-infantile DEE
  • p.Gly352Ser Multiple submitters neurodevelopmental disorder with involuntary movements
  • p.Gly40Glu Multiple submitters early-infantile DEE
  • p.Gly45Arg Multiple submitters Inborn genetic diseases
  • p.Leu157Pro Multiple submitters developmental and epileptic encephalopathy, 17
  • p.Ser207Phe Multiple submitters developmental and epileptic encephalopathy, 17
  • p.Thr48Ile Multiple submitters developmental and epileptic encephalopathy, 17
  • p.Tyr291Asn Multiple submitters early-infantile DEE

Likely pathogenic 41

  • p.Ala221Asp Multiple submitters neurodevelopmental disorder with involuntary movements
  • p.Asp151Asn Multiple submitters developmental and epileptic encephalopathy, 17
  • p.Thr48Asn Multiple submitters early-infantile DEE
  • c.119-2_119-1del Single submitter early-infantile DEE
  • c.464+1G>A Single submitter early-infantile DEE
  • c.464+2T>C Single submitter early-infantile DEE
  • c.593+1G>A Single submitter early-infantile DEE
  • p.Arg206Gly Single submitter movement disorder
  • p.Asn270Ser Single submitter neurodevelopmental disorder with involuntary movements
  • p.Asp201Tyr Single submitter Inborn genetic diseases
  • p.Asp238Gly Single submitter
  • p.Asp273Gly Single submitter early-infantile DEE
  • p.Asp273Tyr Single submitter developmental and epileptic encephalopathy, 17
  • p.Asp328Gly Single submitter
  • p.Asp328Tyr Single submitter neurodevelopmental disorder with involuntary movements
  • p.Asp341del Single submitter developmental and epileptic encephalopathy, 17
  • p.Gln205Pro Single submitter developmental and epileptic encephalopathy, 17
  • p.Gln52His Single submitter neurodevelopmental disorder with involuntary movements
  • p.Glu237Asp Single submitter Inborn genetic diseases
  • p.Glu246Gln Single submitter developmental and epileptic encephalopathy, 17
  • p.Glu246Val Single submitter developmental and epileptic encephalopathy, 17
  • p.Gly184Arg Single submitter Inborn genetic diseases
  • p.Gly2Arg Single submitter neurodevelopmental disorder with involuntary movements
  • p.Gly40Val Single submitter developmental and epileptic encephalopathy, 1
  • p.Ile19Met Single submitter developmental and epileptic encephalopathy, 17
  • p.Leu13Pro Single submitter
  • p.Leu176Gln Single submitter early-infantile DEE
  • p.Leu228Pro Single submitter
  • p.Leu23Phe Single submitter early-infantile DEE
  • p.Leu39_Gly40insVal Single submitter developmental and epileptic encephalopathy, 17
  • p.Leu39del Single submitter developmental and epileptic encephalopathy, 17
  • p.Lys46Asn Single submitter neurodevelopmental disorder with involuntary movements
  • p.Met244Lys Single submitter developmental and epileptic encephalopathy, 17
  • p.Phe251Ile Single submitter developmental and epileptic encephalopathy, 17
  • p.Phe336fs Single submitter
  • p.Pro170Arg Single submitter developmental and epileptic encephalopathy, 17
  • p.Ser229Arg Single submitter developmental and epileptic encephalopathy, 17
  • p.Ser282Pro Single submitter neurodevelopmental disorder with involuntary movements
  • p.Val226fs Single submitter
  • c.723+4089del No assertion criteria
  • p.Thr182Ile No assertion criteria Dyskinesia

Conflicting classifications of pathogenicity 31

Benign 36

Benign/Likely benign 22

Likely benign 226

Uncertain significance 176