Sugi Variant

Sugi Variant/ADK

ADK — 173 ClinVar variants

All ClinVar germline ADK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →

5 Pathogenic · 2 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 5 Conflicting · 19 Benign · 3 Benign/Likely benign · 63 Likely benign · 71 Uncertain significance

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

⚑ Evidence disagreements 55

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 1

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

Predictors lean, ClinVar uncertain 23

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

Predictors split 31

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

All ADK variants

Pathogenic 5

  • p.Ala216fs Single submitter adenosine kinase deficiency
  • p.Ala318Glu Single submitter adenosine kinase deficiency
  • p.Asp110fs Single submitter
  • p.Asp235Ala No assertion criteria adenosine kinase deficiency
  • p.Gly30Glu No assertion criteria adenosine kinase deficiency

Pathogenic/Likely pathogenic 2

  • p.Ala344Val Multiple submitters adenosine kinase deficiency
  • p.Thr190fs Multiple submitters ADK-related disorder

Likely pathogenic 5

  • p.Arg22Ter Single submitter adenosine kinase deficiency
  • p.Gln306Ter Single submitter adenosine kinase deficiency
  • p.Met1fs Single submitter adenosine kinase deficiency
  • p.Ser215fs Single submitter adenosine kinase deficiency
  • p.Asn272fs No assertion criteria adenosine kinase deficiency

Conflicting classifications of pathogenicity 5

  • p.Cys143= Single submitter adenosine kinase deficiency
  • p.Leu65= Single submitter Inborn genetic diseases
  • p.Met1Lys Single submitter adenosine kinase deficiency
  • p.Met1Thr Single submitter Inborn genetic diseases
  • p.Phe247Leu Single submitter adenosine kinase deficiency ⚠

Benign 19

Benign/Likely benign 3

  • c.195-18A>G Multiple submitters adenosine kinase deficiency
  • c.726+11T>G Multiple submitters adenosine kinase deficiency
  • p.Ter363= Multiple submitters adenosine kinase deficiency

Likely benign 63

Uncertain significance 71