Sugi Variant

Sugi Variant/PRKACA

PRKACA — 80 ClinVar variants

All ClinVar germline PRKACA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →

1 Pathogenic · 2 Pathogenic/Likely pathogenic · 2 Conflicting · 3 Benign · 3 Benign/Likely benign · 26 Likely benign · 43 Uncertain significance

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

⚑ Evidence disagreements 38

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 1

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

Predictors lean, ClinVar uncertain 26

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

Predictors split 11

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

All PRKACA variants

Pathogenic 1

Pathogenic/Likely pathogenic 2

  • p.Gly137Arg Multiple submitters cardioacrofacial dysplasia 1
  • p.Leu206Arg No assertion criteria ACTH-independent adrenal Cushing syndrome, somatic

Conflicting classifications of pathogenicity 2

Benign 3

Benign/Likely benign 3

Likely benign 26

Uncertain significance 43