Sugi Variant

Sugi Variant/PMPCB

PMPCB — 173 ClinVar variants

All ClinVar germline PMPCB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 79 flagged for review →

3 Pathogenic · 8 Likely pathogenic · 4 Conflicting · 15 Benign · 2 Benign/Likely benign · 51 Likely benign · 90 Uncertain significance

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

⚑ Evidence disagreements 79

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 66

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

Predictors split 9

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

All PMPCB variants

Pathogenic 3

  • p.Arg175His Single submitter multiple mitochondrial dysfunctions syndrome 6
  • p.Ile422Thr No assertion criteria multiple mitochondrial dysfunctions syndrome 6
  • p.Val177Gly No assertion criteria multiple mitochondrial dysfunctions syndrome 6

Likely pathogenic 8

  • p.Arg175Cys Multiple submitters PMPCB-related mitochondrial disorder
  • c.1154+5G>C Single submitter PMPCB-related ataxia
  • c.736+1G>T Single submitter multiple mitochondrial dysfunctions syndrome 6
  • p.Arg481fs Single submitter multiple mitochondrial dysfunctions syndrome 6
  • p.Glu181fs Single submitter multiple mitochondrial dysfunctions syndrome 6
  • p.Met408fs Single submitter
  • p.Thr360fs Single submitter multiple mitochondrial dysfunctions syndrome 6
  • p.Tyr202Ter Single submitter multiple mitochondrial dysfunctions syndrome 6

Conflicting classifications of pathogenicity 4

  • p.Ala201Pro Single submitter multiple mitochondrial dysfunctions syndrome 6 ⚠
  • p.Arg41Lys Single submitter multiple mitochondrial dysfunctions syndrome 6 ⚠
  • p.Arg488Cys Single submitter multiple mitochondrial dysfunctions syndrome 6 ⚠
  • p.Asn446Asp Single submitter multiple mitochondrial dysfunctions syndrome 6 ⚠

Benign 15

Benign/Likely benign 2

Likely benign 51

Uncertain significance 90