Sugi Variant

Sugi Variant/RRP12

RRP12 — 232 ClinVar variants

All ClinVar germline RRP12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 196 flagged for review →

2 Pathogenic · 1 Conflicting · 2 Benign · 13 Likely benign · 214 Uncertain significance

Full RRP12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 196

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 2

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 156

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 156

Predictors split 37

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

All RRP12 variants

Pathogenic 2

  • p.Glu477Lys No assertion criteria basal ganglia calcification, idiopathic, 11, autosomal recessive ⚠
  • p.Phe878Leu No assertion criteria basal ganglia calcification, idiopathic, 11, autosomal recessive ⚠

Conflicting classifications of pathogenicity 1

Benign 2

Likely benign 13

Uncertain significance 214