Sugi Variant

Sugi Variant/PRKRA

PRKRA — 195 ClinVar variants

All ClinVar germline PRKRA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →

1 Pathogenic · 2 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 6 Conflicting · 17 Benign · 14 Benign/Likely benign · 67 Likely benign · 87 Uncertain significance

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

⚑ Evidence disagreements 60

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 3

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 47

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

Predictors split 9

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

All PRKRA variants

Pathogenic 1

  • p.His89fs No assertion criteria dystonia 16

Pathogenic/Likely pathogenic 2

Likely pathogenic 1

Conflicting classifications of pathogenicity 6

Benign 17

Benign/Likely benign 14

Likely benign 67

Uncertain significance 87