Sugi Variant

Sugi Variant/PRKG2

PRKG2 — 97 ClinVar variants

All ClinVar germline PRKG2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →

6 Pathogenic · 3 Likely pathogenic · 11 Benign · 2 Benign/Likely benign · 20 Likely benign · 55 Uncertain significance

Full PRKG2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 53

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 lean, ClinVar uncertain 43

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

Predictors split 10

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

All PRKG2 variants

Pathogenic 6

Likely pathogenic 3

  • p.Ala359fs Single submitter acromesomelic dysplasia 4
  • p.Asp544Tyr Single submitter acromesomelic dysplasia 4
  • p.Val470Gly Single submitter acromesomelic dysplasia 4

Benign 11

Benign/Likely benign 2

Likely benign 20

Uncertain significance 55