Sugi Variant

Sugi Variant/ACTL6B

ACTL6B — 165 ClinVar variants

All ClinVar germline ACTL6B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 77 flagged for review →

16 Pathogenic · 4 Pathogenic/Likely pathogenic · 34 Likely pathogenic · 4 Conflicting · 1 Benign · 18 Likely benign · 88 Uncertain significance

Full ACTL6B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 77

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 agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 56

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

Predictors split 19

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

All ACTL6B variants

Pathogenic 16

  • p.Arg298Ter Single submitter autism spectrum disorder
  • p.Arg374Ter Single submitter developmental and epileptic encephalopathy, 76
  • p.Cys333Ter Single submitter developmental and epileptic encephalopathy, 76
  • p.Gln202Ter Single submitter developmental and epileptic encephalopathy, 76
  • p.Gly50fs Single submitter developmental and epileptic encephalopathy, 76
  • p.Met137fs Single submitter
  • p.Pro371Arg Single submitter
  • c.1114-1G>A No assertion criteria developmental and epileptic encephalopathy, 76
  • p.Ala156fs No assertion criteria autism spectrum disorder
  • p.Arg423Ter No assertion criteria developmental and epileptic encephalopathy, 76
  • p.Gly393Arg No assertion criteria autism spectrum disorder
  • p.Gly417Trp No assertion criteria autism spectrum disorder
  • p.Leu154Phe No assertion criteria autism spectrum disorder
  • p.Met210fs No assertion criteria developmental and epileptic encephalopathy, 76
  • p.Thr175Pro No assertion criteria autism spectrum disorder
  • p.Trp93Ter No assertion criteria developmental and epileptic encephalopathy, 76

Pathogenic/Likely pathogenic 4

  • p.Gln186Ter Multiple submitters developmental and epileptic encephalopathy, 76
  • p.Gly343Arg Multiple submitters Inborn genetic diseases
  • p.Arg363Ter No assertion criteria developmental and epileptic encephalopathy, 76
  • p.Ter427AspextTer? No assertion criteria developmental and epileptic encephalopathy, 76

Likely pathogenic 34

  • p.Arg97Ter Multiple submitters developmental and epileptic encephalopathy, 76
  • p.Trp247Ter Multiple submitters developmental and epileptic encephalopathy, 76
  • c.1113+1G>T Single submitter congenital generalized lipodystrophy type 2
  • c.369+1G>C Single submitter developmental and epileptic encephalopathy, 76
  • c.370-2A>G Single submitter
  • p.Ala13fs Single submitter
  • p.Arg130Trp Single submitter
  • p.Arg298Gln Single submitter intellectual disability
  • p.Arg374Gln Single submitter
  • p.Asn125Lys Single submitter intellectual developmental disorder with severe speech and ambulation defects
  • p.Asn233fs Single submitter developmental and epileptic encephalopathy, 76
  • p.Cys149fs Single submitter intellectual developmental disorder with severe speech and ambulation defects
  • p.Cys420Ter Single submitter ACTL6B-related BAFopathy
  • p.Gln242Ter Single submitter developmental and epileptic encephalopathy, 76
  • p.Gln274Ter Single submitter developmental and epileptic encephalopathy, 76
  • p.Gln278Ter Single submitter developmental and epileptic encephalopathy, 76
  • p.Gly331Ala Single submitter intellectual developmental disorder with severe speech and ambulation defects
  • p.Gly343Trp Single submitter intellectual developmental disorder with severe speech and ambulation defects
  • p.Gly349Ser Single submitter developmental and epileptic encephalopathy, 76
  • p.Leu185Pro Single submitter intellectual developmental disorder with severe speech and ambulation defects
  • p.Leu206Pro Single submitter developmental and epileptic encephalopathy, 76
  • p.Pro371Ala Single submitter ⚠
  • p.Pro371Leu Single submitter
  • p.Ser409fs Single submitter developmental and epileptic encephalopathy, 76
  • p.Tyr284Ter Single submitter developmental and epileptic encephalopathy, 76
  • p.Val421_Cys425del Single submitter ACTL6B-related neurodevelopmental disorder
  • p.Val5fs Single submitter developmental and epileptic encephalopathy, 76
  • c.669+1G>A No assertion criteria ACTL6B-related recessive epilepsy
  • p.Arg24Cys No assertion criteria developmental and epileptic encephalopathy, 76
  • p.Gln411Ter No assertion criteria ACTL6B-related recessive epilepsy
  • p.Gly295Asp No assertion criteria developmental and epileptic encephalopathy, 76
  • p.Gly29Arg No assertion criteria developmental and epileptic encephalopathy, 76
  • p.Tyr294Asp No assertion criteria developmental and epileptic encephalopathy, 76
  • p.Val166Ala No assertion criteria developmental and epileptic encephalopathy, 76

Conflicting classifications of pathogenicity 4

  • p.Cys425Ter Single submitter ACTL6B-related BAFopathy
  • p.Phe147del Single submitter developmental and epileptic encephalopathy, 76
  • p.Pro232fs Single submitter developmental and epileptic encephalopathy, 76
  • p.Tyr218His Single submitter ⚠

Benign 1

  • c.*98T>A Multiple submitters developmental and epileptic encephalopathy, 76

Likely benign 18

Uncertain significance 88