Sugi Variant

Sugi Variant/PRSS56

PRSS56 — 249 ClinVar variants

All ClinVar germline PRSS56 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 133 flagged for review →

14 Pathogenic · 2 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 3 Conflicting · 32 Benign · 5 Benign/Likely benign · 46 Likely benign · 139 Uncertain significance

Full PRSS56 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 vs ClinVar 1

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

Predictors agree, ClinVar conflicts 3

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

Predictors lean, ClinVar uncertain 116

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 PRSS56 variants

Pathogenic 14

Pathogenic/Likely pathogenic 2

  • p.Arg74fs Multiple submitters isolated microphthalmia 6
  • p.Val525fs Multiple submitters PRSS56-related disorder

Likely pathogenic 8

Conflicting classifications of pathogenicity 3

Benign 32

Benign/Likely benign 5

  • c.1352-14C>G Multiple submitters isolated microphthalmia 6
  • c.97+18C>T Multiple submitters isolated microphthalmia 6
  • p.Cys473= Multiple submitters isolated microphthalmia 6
  • p.Pro200= Multiple submitters isolated microphthalmia 6
  • p.Pro460= Multiple submitters isolated microphthalmia 6

Likely benign 46

Uncertain significance 139