Sugi Variant

Sugi Variant/AP1G1

AP1G1 — 214 ClinVar variants

All ClinVar germline AP1G1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 119 flagged for review →

15 Pathogenic · 12 Likely pathogenic · 4 Conflicting · 1 Benign · 46 Likely benign · 136 Uncertain significance

Full AP1G1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 119

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 4

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

Predictors lean, ClinVar uncertain 83

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

Predictors split 31

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

All AP1G1 variants

Pathogenic 15

  • p.Arg416Ter Multiple submitters Usmani-Riazuddin syndrome, autosomal dominant
  • c.1497+1G>A Single submitter Usmani-Riazuddin syndrome, autosomal recessive
  • c.1872+1G>T Single submitter Usmani-Riazuddin syndrome, autosomal dominant
  • p.Arg204Ter Single submitter
  • p.Arg248Ter Single submitter Usmani-Riazuddin syndrome, autosomal dominant
  • p.Arg379Ter Single submitter Inborn genetic diseases
  • p.Gln694Ter Single submitter Inborn genetic diseases
  • p.Leu146fs Single submitter
  • p.Met172fs Single submitter Usmani-Riazuddin syndrome, autosomal recessive
  • p.Met26fs Single submitter
  • p.Tyr432fs Single submitter Usmani-Riazuddin syndrome, autosomal dominant
  • p.Arg35Gln No assertion criteria Usmani-Riazuddin syndrome, autosomal dominant
  • p.Arg35Trp No assertion criteria Usmani-Riazuddin syndrome, autosomal dominant
  • p.Ile544fs No assertion criteria Usmani-Riazuddin syndrome, autosomal dominant
  • p.Pro243His No assertion criteria Usmani-Riazuddin syndrome, autosomal recessive

Likely pathogenic 12

  • p.Arg15Trp Multiple submitters Usmani-Riazuddin syndrome, autosomal dominant
  • c.919-1G>T Single submitter
  • c.974+1G>T Single submitter neurodevelopmental disorder
  • c.-2G>A Single submitter Usmani-Riazuddin syndrome, autosomal dominant
  • p.Ala579_Arg583delinsPro Single submitter
  • p.Asp42Glu Single submitter ⚠
  • p.Gln273Ter Single submitter Usmani-Riazuddin syndrome, autosomal dominant
  • p.Gln560Ter Single submitter Usmani-Riazuddin syndrome, autosomal dominant
  • p.Gln680fs Single submitter Usmani-Riazuddin syndrome, autosomal dominant
  • p.Glu170Ter Single submitter
  • p.Tyr290fs Single submitter Usmani-Riazuddin syndrome, autosomal dominant
  • p.Lys156= No assertion criteria Usmani-Riazuddin syndrome, autosomal dominant

Conflicting classifications of pathogenicity 4

Benign 1

Likely benign 46

Uncertain significance 136