Sugi Variant

Sugi Variant/PRDM6

PRDM6 — 172 ClinVar variants

All ClinVar germline PRDM6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →

2 Pathogenic · 3 Conflicting · 7 Benign · 37 Likely benign · 123 Uncertain significance

Full PRDM6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 118

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 3

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

Predictors lean, ClinVar uncertain 72

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

Predictors split 43

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

All PRDM6 variants

Pathogenic 2

  • p.Arg549Gln No assertion criteria patent ductus arteriosus 3
  • p.Cys263Ser No assertion criteria patent ductus arteriosus 3 ⚠

Conflicting classifications of pathogenicity 3

Benign 7

Likely benign 37

Uncertain significance 123