Sugi Variant

Sugi Variant/PRDX3

PRDX3 — 57 ClinVar variants

All ClinVar germline PRDX3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →

7 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 1 Conflicting · 5 Likely benign · 41 Uncertain significance

Full PRDX3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 34

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 30

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

Predictors split 4

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

All PRDX3 variants

Pathogenic 7

  • p.Arg207Ter Single submitter
  • c.37-2A>G No assertion criteria spinocerebellar ataxia, autosomal recessive 32
  • p.Ala114fs No assertion criteria spinocerebellar ataxia, autosomal recessive 32
  • p.Asp163Glu No assertion criteria spinocerebellar ataxia, autosomal recessive 32
  • p.Asp190His No assertion criteria corneal dystrophy, punctiform and polychromatic pre-descemet
  • p.Asp202Asn No assertion criteria spinocerebellar ataxia, autosomal recessive 32 ⚠
  • p.Gln220Ter No assertion criteria spinocerebellar ataxia, autosomal recessive 32

Pathogenic/Likely pathogenic 1

  • p.Arg15Ter Multiple submitters autosomal recessive cerebellar ataxia

Likely pathogenic 2

  • c.717+1G>A Single submitter
  • p.Arg170Ter Single submitter spinocerebellar ataxia, autosomal recessive 32

Conflicting classifications of pathogenicity 1

  • p.Ala142Gly Single submitter spinocerebellar ataxia, autosomal recessive 32

Likely benign 5

Uncertain significance 41