Sugi Variant

Sugi Variant/PMP2

PMP2 — 134 ClinVar variants

All ClinVar germline PMP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →

1 Pathogenic · 3 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 3 Conflicting · 8 Benign · 1 Benign/Likely benign · 41 Likely benign · 73 Uncertain significance

Full PMP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 55

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 34

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

Predictors split 19

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

All PMP2 variants

Pathogenic 1

  • p.Thr51Pro No assertion criteria Charcot-Marie-Tooth disease, demyelinating, type 1G

Pathogenic/Likely pathogenic 3

  • p.Ile43Asn Multiple submitters peripheral neuropathy
  • p.Ile50del Multiple submitters peripheral neuropathy
  • p.Ile52Thr Multiple submitters Charcot-Marie-Tooth disease, demyelinating, type 1G

Likely pathogenic 4

  • p.Met114Thr Single submitter PMP2-related disorder
  • p.Ser56Ile Single submitter Charcot-Marie-Tooth disease, demyelinating, type 1G
  • p.Val41Gly Single submitter Charcot-Marie-Tooth disease, demyelinating, type 1G
  • p.Ile43Ser No assertion criteria Charcot-Marie-Tooth disease, demyelinating, type 1G

Conflicting classifications of pathogenicity 3

Benign 8

Benign/Likely benign 1

Likely benign 41

Uncertain significance 73