Sugi Variant

Sugi Variant/PRDX1

PRDX1 — 72 ClinVar variants

All ClinVar germline PRDX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 11 Benign · 1 Benign/Likely benign · 22 Likely benign · 35 Uncertain significance

Full PRDX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 25

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 5

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

All PRDX1 variants

Pathogenic 1

  • c.515-1G>T Multiple submitters methylmalonic aciduria and homocystinuria type cblC

Pathogenic/Likely pathogenic 1

  • c.515-2A>T Multiple submitters methylmalonic aciduria and homocystinuria type cblC

Likely pathogenic 1

Benign 11

Benign/Likely benign 1

Likely benign 22

Uncertain significance 35