Sugi Variant

Sugi Variant/ADCY1

ADCY1 — 398 ClinVar variants

All ClinVar germline ADCY1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 147 flagged for review →

1 Likely pathogenic · 2 Conflicting · 44 Benign · 11 Benign/Likely benign · 177 Likely benign · 163 Uncertain significance

Full ADCY1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 147

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 127

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

Predictors split 18

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

All ADCY1 variants

Likely pathogenic 1

  • p.Gln804Ter Single submitter autosomal recessive nonsyndromic hearing loss 44

Conflicting classifications of pathogenicity 2

Benign 44

Benign/Likely benign 11

Likely benign 177

Uncertain significance 163