Sugi Variant

Sugi Variant/PRPF8

PRPF8 — 1793 ClinVar variants

All ClinVar germline PRPF8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 607 flagged for review →

34 Pathogenic · 8 Pathogenic/Likely pathogenic · 34 Likely pathogenic · 78 Conflicting · 35 Benign · 52 Benign/Likely benign · 833 Likely benign · 719 Uncertain significance

Full PRPF8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 607

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 17

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

Predicted LoF vs a conflicting call 2

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 276

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 276

Predictors split 311

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 311

All PRPF8 variants

Pathogenic 34

Pathogenic/Likely pathogenic 8

Likely pathogenic 34

Conflicting classifications of pathogenicity 78

Benign 35

Benign/Likely benign 52

Likely benign 833

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 719

Showing the top 300 by review status; the full set is in the sitemap.