Sugi Variant

Sugi Variant/PMPCA

PMPCA — 214 ClinVar variants

All ClinVar germline PMPCA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 99 flagged for review →

8 Pathogenic · 3 Likely pathogenic · 6 Conflicting · 14 Benign · 2 Benign/Likely benign · 73 Likely benign · 108 Uncertain significance

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

⚑ Evidence disagreements 99

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 2

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

Predictors lean, ClinVar uncertain 80

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

Predictors split 17

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

All PMPCA variants

Pathogenic 8

  • c.1408+1G>A Single submitter autosomal recessive spinocerebellar ataxia 2
  • p.Gln452Ter Single submitter
  • p.Ile408fs Single submitter
  • p.Ser34fs Single submitter
  • p.Ala377Thr No assertion criteria autosomal recessive spinocerebellar ataxia 2
  • p.Gly356Ser No assertion criteria blindness (disorder)
  • p.Gly515Arg No assertion criteria autosomal recessive spinocerebellar ataxia 2
  • p.Ser96Leu No assertion criteria autosomal recessive spinocerebellar ataxia 2

Likely pathogenic 3

  • c.991-2A>G Single submitter autosomal recessive spinocerebellar ataxia 2
  • p.Arg122Ter Single submitter
  • p.Arg402Ter Single submitter autosomal recessive spinocerebellar ataxia 2

Conflicting classifications of pathogenicity 6

Benign 14

Benign/Likely benign 2

Likely benign 73

Uncertain significance 108