Sugi Variant

Sugi Variant/CA8

CA8 — 88 ClinVar variants

All ClinVar germline CA8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →

5 Pathogenic · 5 Likely pathogenic · 34 Benign · 4 Benign/Likely benign · 7 Likely benign · 33 Uncertain significance

Full CA8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 30

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 23

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

Predictors split 7

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

All CA8 variants

Pathogenic 5

  • p.Arg237Gln No assertion criteria cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
  • p.Arg78Ter No assertion criteria cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
  • p.Asn84Ser No assertion criteria cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
  • p.Gly162Arg No assertion criteria cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
  • p.Ser100Pro No assertion criteria cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3

Likely pathogenic 5

  • p.Arg275Trp Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
  • p.Asn84Thr Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
  • p.Gln244fs Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
  • p.Lys159Ter Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
  • c.100+1G>A No assertion criteria cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3

Benign 34

Benign/Likely benign 4

  • c.576+5G>A Multiple submitters Inborn genetic diseases
  • p.Gly265= Multiple submitters Inborn genetic diseases
  • p.Pro103= Multiple submitters Inborn genetic diseases
  • c.*36-24dup No assertion criteria

Likely benign 7

Uncertain significance 33