Sugi Variant

Sugi Variant/ADSS1

ADSS1 — 494 ClinVar variants

All ClinVar germline ADSS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 187 flagged for review →

13 Pathogenic · 4 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 5 Conflicting · 23 Benign · 2 Benign/Likely benign · 194 Likely benign · 243 Uncertain significance

Full ADSS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 187

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 113

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

Predictors split 71

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

All ADSS1 variants

Pathogenic 13

Pathogenic/Likely pathogenic 4

  • p.Asp261Asn Multiple submitters ADSS1-related disorder
  • p.Gln323Ter Multiple submitters myopathy, distal, 5
  • p.Lys248fs Multiple submitters myopathy, distal, 5
  • p.Lys249fs Multiple submitters myopathy, distal, 5

Likely pathogenic 10

Conflicting classifications of pathogenicity 5

Benign 23

Benign/Likely benign 2

Likely benign 194

Uncertain significance 243