Sugi Variant

Sugi Variant/ADCY6

ADCY6 — 203 ClinVar variants

All ClinVar germline ADCY6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 130 flagged for review →

3 Pathogenic · 3 Conflicting · 28 Benign · 1 Benign/Likely benign · 33 Likely benign · 135 Uncertain significance

Full ADCY6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 130

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 2

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

Predictors lean, ClinVar uncertain 95

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

Predictors split 33

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

All ADCY6 variants

Pathogenic 3

  • c.1535+1G>A No assertion criteria lethal congenital contracture syndrome 8
  • p.Arg1116Cys No assertion criteria lethal congenital contracture syndrome 8
  • p.Glu1003Lys No assertion criteria lethal congenital contracture syndrome 8

Conflicting classifications of pathogenicity 3

Benign 28

Benign/Likely benign 1

Likely benign 33

Uncertain significance 135