Sugi Variant

Sugi Variant/ADPRS

ADPRS — 105 ClinVar variants

All ClinVar germline ADPRS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →

10 Pathogenic · 2 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 2 Conflicting · 1 Benign · 11 Likely benign · 71 Uncertain significance

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

⚑ Evidence disagreements 69

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 lean, ClinVar uncertain 36

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 ADPRS variants

Pathogenic 10

  • p.Ala139fs Multiple submitters neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
  • p.Arg114fs Single submitter
  • p.Asn144Ter Single submitter neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
  • p.Gln194Ter Single submitter neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
  • p.Gln214Ter Single submitter neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
  • p.His182fs Single submitter neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
  • p.Thr49fs Single submitter neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
  • p.Tyr242Ter Single submitter neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
  • p.Asp34Asn No assertion criteria neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
  • p.Gln334Ter No assertion criteria neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

Pathogenic/Likely pathogenic 2

  • p.Thr79Pro Multiple submitters neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
  • p.Val335Gly Multiple submitters neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

Likely pathogenic 8

  • p.Ser177Leu Multiple submitters neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
  • p.Gln106Ter Single submitter neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
  • p.Gln56Ter Single submitter neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
  • p.His182Arg Single submitter neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
  • p.Leu162Pro Single submitter neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
  • p.Leu58fs Single submitter neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
  • p.Tyr188Ter Single submitter neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
  • p.Val98fs Single submitter neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

Conflicting classifications of pathogenicity 2

  • p.Lys248_Ile249delinsAsn Single submitter Inborn genetic diseases
  • p.Tyr346Ter Single submitter neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

Benign 1

  • p.Asp78= No assertion criteria ADPRS-related disorder

Likely benign 11

Uncertain significance 71