Sugi Variant

Sugi Variant/STUB1

STUB1 — 260 ClinVar variants

All ClinVar germline STUB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 114 flagged for review →

14 Pathogenic · 9 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 10 Conflicting · 9 Benign · 3 Benign/Likely benign · 67 Likely benign · 126 Uncertain significance

Full STUB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 114

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 4

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

Predictors lean, ClinVar uncertain 61

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

Predictors split 49

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

All STUB1 variants

Pathogenic 14

  • p.Ala67Thr Single submitter spinocerebellar ataxia 48
  • p.Asn130fs Single submitter
  • p.Asn56Lys Single submitter autosomal recessive spinocerebellar ataxia 16 ⚠
  • p.Gly33Ser Single submitter spinocerebellar ataxia 48
  • p.Lys206fs Single submitter
  • p.Lys22fs Single submitter
  • p.Pro228Ser Single submitter spinocerebellar ataxia 48
  • p.Pro274fs Single submitter spinocerebellar ataxia 48
  • p.Trp147Ter Single submitter
  • p.Ala79Thr No assertion criteria autosomal recessive spinocerebellar ataxia 16
  • p.Asn130Ile No assertion criteria autosomal recessive spinocerebellar ataxia 16
  • p.Leu165Phe No assertion criteria autosomal recessive spinocerebellar ataxia 16
  • p.Met240Thr No assertion criteria autosomal recessive spinocerebellar ataxia 16
  • p.Trp147Cys No assertion criteria autosomal recessive spinocerebellar ataxia 16

Pathogenic/Likely pathogenic 9

  • p.Gln196Ter Multiple submitters autosomal recessive spinocerebellar ataxia 16
  • p.Gln277Ter Multiple submitters spinocerebellar ataxia 48
  • p.Glu296Ter Multiple submitters autosomal recessive spinocerebellar ataxia 16
  • p.Leu275fs Multiple submitters spinocerebellar ataxia 48
  • p.Leu275fs Multiple submitters spinocerebellar ataxia 48
  • p.Ser216fs Multiple submitters autosomal recessive spinocerebellar ataxia 16
  • p.Tyr230fs Multiple submitters spinocerebellar ataxia 48
  • p.Val264fs Multiple submitters spinocerebellar ataxia 48
  • p.Leu123Val No assertion criteria autosomal recessive spinocerebellar ataxia 16 ⚠

Likely pathogenic 22

  • p.Arg182Ter Multiple submitters autosomal recessive spinocerebellar ataxia 16
  • p.Arg241Trp Multiple submitters autosomal recessive spinocerebellar ataxia 16
  • p.Asn65Ser Multiple submitters spinocerebellar ataxia 48
  • c.159+1G>C Single submitter autosomal recessive spinocerebellar ataxia 16
  • c.525-1G>A Single submitter spinocerebellar ataxia 48
  • c.*240T>C Single submitter autosomal recessive spinocerebellar ataxia 16
  • p.Ala52Gly Single submitter spinocerebellar ataxia 48
  • p.Ala79Asp Single submitter spinocerebellar ataxia 48
  • p.Arg173fs Single submitter
  • p.Arg241Gly Single submitter autosomal recessive spinocerebellar ataxia 16
  • p.Arg254Gly Single submitter spinocerebellar ataxia 48
  • p.Asn34fs Single submitter Autosomal dominant and autosomal recessive STUB1-related disorders
  • p.Cys232_Gly233del Single submitter autosomal recessive spinocerebellar ataxia 16
  • p.Cys69Trp Single submitter autosomal recessive spinocerebellar ataxia 16
  • p.Gln157Ter Single submitter autosomal recessive spinocerebellar ataxia 16
  • p.Gln262Ter Single submitter spinocerebellar ataxia 48
  • p.Glu258Ter Single submitter
  • p.His260fs Single submitter spinocerebellar ataxia 48
  • p.Met1Ile Single submitter spinocerebellar ataxia 48
  • p.Pro57Leu Single submitter spinocerebellar ataxia 48
  • p.Val270fs Single submitter spinocerebellar ataxia 48
  • p.His260Pro No assertion criteria autosomal recessive spinocerebellar ataxia 16

Conflicting classifications of pathogenicity 10

Benign 9

Benign/Likely benign 3

Likely benign 67

Uncertain significance 126