Sugi Variant

Sugi Variant/PRPF3

PRPF3 — 453 ClinVar variants

All ClinVar germline PRPF3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 167 flagged for review →

7 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 25 Conflicting · 37 Benign · 8 Benign/Likely benign · 166 Likely benign · 205 Uncertain significance

Full PRPF3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 167

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 agree, ClinVar conflicts 8

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 113

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

Predictors split 45

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

All PRPF3 variants

Pathogenic 7

Pathogenic/Likely pathogenic 1

  • p.Arg449Gly Multiple submitters PRPF3-related disorder

Likely pathogenic 4

Conflicting classifications of pathogenicity 25

Benign 37

Benign/Likely benign 8

Likely benign 166

Uncertain significance 205