Sugi Variant

Sugi Variant/PRCD

PRCD — 144 ClinVar variants

All ClinVar germline PRCD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →

7 Pathogenic · 2 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 4 Conflicting · 7 Benign · 1 Benign/Likely benign · 43 Likely benign · 76 Uncertain significance

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

⚑ Evidence disagreements 31

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 1

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

Predictors lean, ClinVar uncertain 24

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 PRCD variants

Pathogenic 7

Pathogenic/Likely pathogenic 2

  • c.74+1G>A Multiple submitters inherited retinal dystrophy
  • p.Met1Thr Multiple submitters inherited retinal dystrophy

Likely pathogenic 4

Conflicting classifications of pathogenicity 4

Benign 7

Benign/Likely benign 1

  • p.Arg17Cys Multiple submitters retinitis pigmentosa

Likely benign 43

Uncertain significance 76