Sugi Variant

Sugi Variant/ACTG2

ACTG2 — 103 ClinVar variants

All ClinVar germline ACTG2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →

19 Pathogenic · 5 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 1 Conflicting · 9 Benign · 5 Likely benign · 48 Uncertain significance

Full ACTG2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 46

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 38

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 ACTG2 variants

Pathogenic 19

  • p.Ala205Thr Multiple submitters visceral myopathy 1
  • p.Arg178Cys Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 5
  • p.Arg178His Multiple submitters Fetal anomalies with a likely genetic cause
  • p.Arg178Leu Multiple submitters Inborn genetic diseases
  • p.Arg257Cys Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 5
  • p.Arg257His Multiple submitters Inborn genetic diseases
  • p.Arg63Gly Multiple submitters visceral myopathy 1
  • p.Gly198Asp Multiple submitters visceral myopathy 1
  • c.255+210C>A Single submitter visceral myopathy 1
  • p.Arg148Ser Single submitter visceral myopathy 1
  • p.Arg178Ser Single submitter visceral myopathy 1
  • p.Arg211Leu Single submitter visceral myopathy 1
  • p.Arg63Gln Single submitter visceral myopathy 1
  • p.Gln138Arg Single submitter megacystis-microcolon-intestinal hypoperistalsis syndrome 5
  • p.Ile193Phe Single submitter
  • p.Met45Thr Single submitter visceral myopathy 1
  • p.Pro39Leu Single submitter visceral myopathy 1
  • p.Arg38His No assertion criteria chronic intestinal pseudoobstruction
  • p.Gly269Glu No assertion criteria visceral myopathy 1

Pathogenic/Likely pathogenic 5

  • p.Arg211Gln Multiple submitters visceral myopathy 1
  • p.Arg40Cys Multiple submitters visceral myopathy 1
  • p.Arg40His Multiple submitters visceral myopathy 1
  • p.Tyr134Asn Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 5
  • p.Arg148Leu No assertion criteria visceral myopathy 1

Likely pathogenic 16

  • p.Arg148Cys Multiple submitters visceral myopathy 1
  • p.Arg63Leu Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 5
  • c.589_613+163del Single submitter visceral myopathy 1
  • p.Arg197Thr Single submitter visceral myopathy 1
  • p.Arg336Gln Single submitter megacystis-microcolon-intestinal hypoperistalsis syndrome 5
  • p.Asn116Ser Single submitter
  • p.Asp155Gly Single submitter megacystis-microcolon-intestinal hypoperistalsis syndrome 5
  • p.Glu196Asp Single submitter
  • p.Gly147Arg Single submitter megacystis-microcolon-intestinal hypoperistalsis syndrome
  • p.Gly198Val Single submitter megacystis-microcolon-intestinal hypoperistalsis syndrome 5
  • p.Leu143Phe Single submitter
  • p.Pro113Ala Single submitter visceral myopathy 1
  • p.Pro323Leu Single submitter chronic intestinal pseudoobstruction
  • p.Pro39Arg Single submitter megacystis-microcolon-intestinal hypoperistalsis syndrome 5
  • p.Val10Met Single submitter visceral myopathy 1
  • p.Tyr70Cys No assertion criteria visceral myopathy 1

Conflicting classifications of pathogenicity 1

Benign 9

  • c.256-3T>C Multiple submitters visceral myopathy 1
  • c.-36-12G>C Multiple submitters visceral myopathy 1
  • c.-6C>T Multiple submitters visceral myopathy 1
  • p.Glu118= Multiple submitters megacystis-microcolon-intestinal hypoperistalsis syndrome 5
  • p.Ile152= Multiple submitters
  • p.Pro323= Multiple submitters
  • p.Asp82= Single submitter
  • c.613+8G>T No assertion criteria ACTG2-related disorder
  • c.*8A>G No assertion criteria ACTG2-related disorder

Likely benign 5

  • p.Ala205= Single submitter
  • p.Gln264= Single submitter
  • p.Glu242Lys Single submitter megacystis-microcolon-intestinal hypoperistalsis syndrome 5
  • p.Leu9= Single submitter
  • p.His74= No assertion criteria ACTG2-related disorder

Uncertain significance 48