Sugi Variant

Sugi Variant/AP4S1

AP4S1 — 153 ClinVar variants

All ClinVar germline AP4S1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →

11 Pathogenic · 3 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 4 Conflicting · 20 Benign · 3 Benign/Likely benign · 50 Likely benign · 52 Uncertain significance

Full AP4S1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 33

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 20

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

Predictors split 13

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

All AP4S1 variants

Pathogenic 11

Pathogenic/Likely pathogenic 3

  • c.294+1G>T Multiple submitters Spastic paraplegia
  • c.295-3C>A Multiple submitters Spastic Paraplegia 52
  • p.Arg97Ter Multiple submitters hereditary spastic paraplegia 52

Likely pathogenic 10

  • c.138+1G>A Multiple submitters neurodevelopmental disorder
  • c.139-2A>G Multiple submitters hereditary spastic paraplegia 52
  • p.Met1Thr Multiple submitters Spastic paraplegia
  • c.138+2T>G Single submitter hereditary spastic paraplegia 52
  • c.226-2A>G Single submitter Spastic paraplegia
  • c.295-1G>A Single submitter hereditary spastic paraplegia 52
  • p.Leu6Pro Single submitter Inborn genetic diseases
  • p.Glu51fs No assertion criteria AP4S1-related disorder
  • p.Ile80fs No assertion criteria Spastic paraplegia
  • p.Ser17fs No assertion criteria Spastic paraplegia

Conflicting classifications of pathogenicity 4

Benign 20

Benign/Likely benign 3

Likely benign 50

Uncertain significance 52