Sugi Variant

Sugi Variant/ARPC1B

ARPC1B — 368 ClinVar variants

All ClinVar germline ARPC1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 133 flagged for review →

17 Pathogenic · 1 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 2 Conflicting · 10 Benign · 11 Benign/Likely benign · 178 Likely benign · 143 Uncertain significance

Full ARPC1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 133

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 lean, ClinVar uncertain 62

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

Predictors split 71

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

All ARPC1B variants

Pathogenic 17

  • c.392+2T>C Multiple submitters
  • c.64+2T>A Multiple submitters platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
  • p.Ala261= Multiple submitters platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
  • p.Leu247fs Multiple submitters combined immunodeficiency
  • p.Ala15_Trp16insTer Single submitter
  • p.Asp255fs Single submitter platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
  • p.Glu108fs Single submitter
  • p.Phe164fs Single submitter Inherited Immunodeficiency Diseases
  • p.Pro288fs Single submitter
  • p.Thr85_Trp86insTer Single submitter
  • p.Tyr77Ter Single submitter
  • c.64+1G>C No assertion criteria platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
  • p.Ala105Val No assertion criteria platelet abnormalities with eosinophilia and immune-mediated inflammatory disease ⚠
  • p.Cys209fs No assertion criteria platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
  • p.Glu363fs No assertion criteria platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
  • p.Val208Phe No assertion criteria platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
  • p.Val91fs No assertion criteria platelet abnormalities with eosinophilia and immune-mediated inflammatory disease

Pathogenic/Likely pathogenic 1

  • p.Glu300fs Multiple submitters ARPC1B-related disorder

Likely pathogenic 6

Conflicting classifications of pathogenicity 2

  • p.Ala236= Single submitter Inborn genetic diseases
  • p.Ser364Leu Single submitter platelet abnormalities with eosinophilia and immune-mediated inflammatory disease ⚠

Benign 10

Benign/Likely benign 11

Likely benign 178

Uncertain significance 143