Sugi Variant

Sugi Variant/PRR12

PRR12 — 809 ClinVar variants

All ClinVar germline PRR12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 436 flagged for review →

46 Pathogenic · 2 Pathogenic/Likely pathogenic · 32 Likely pathogenic · 8 Conflicting · 34 Benign · 9 Benign/Likely benign · 236 Likely benign · 442 Uncertain significance

Full PRR12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 436

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 4

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 277

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 277

Predictors split 152

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 152

All PRR12 variants

Pathogenic 46

Pathogenic/Likely pathogenic 2

  • p.Pro408fs Multiple submitters neuroocular syndrome 1
  • c.5624-2A>G No assertion criteria complex microphthalmia

Likely pathogenic 32

Conflicting classifications of pathogenicity 8

Benign 34

Benign/Likely benign 9

Likely benign 236

Uncertain significance 442

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