Sugi Variant

Sugi Variant/EPB42

EPB42 — 288 ClinVar variants

All ClinVar germline EPB42 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 164 flagged for review →

8 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 33 Conflicting · 20 Benign · 3 Benign/Likely benign · 51 Likely benign · 162 Uncertain significance

Full EPB42 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 164

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 13

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

Predictors lean, ClinVar uncertain 84

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

Predictors split 65

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

All EPB42 variants

Pathogenic 8

  • p.Arg554Ter Single submitter
  • p.Asp145Tyr Single submitter hereditary spherocytosis type 5
  • p.Leu475fs Single submitter hereditary spherocytosis type 5
  • p.Phe548fs Single submitter
  • p.Tyr435Ter Single submitter hereditary spherocytosis type 5
  • p.Val59fs Single submitter hereditary spherocytosis type 5
  • c.922+1G>A No assertion criteria hereditary spherocytosis type 5
  • p.Glu583Ter No assertion criteria hereditary spherocytosis type 5

Pathogenic/Likely pathogenic 1

  • p.Arg259Ter Multiple submitters hereditary spherocytosis type 5

Likely pathogenic 10

Conflicting classifications of pathogenicity 33

Benign 20

Benign/Likely benign 3

  • c.10+19C>T Multiple submitters hereditary spherocytosis type 5
  • c.1318+4C>T Multiple submitters hereditary spherocytosis type 5
  • c.654+7G>A Multiple submitters hereditary spherocytosis type 5

Likely benign 51

Uncertain significance 162