Sugi Variant

Sugi Variant/ZMPSTE24

ZMPSTE24 — 203 ClinVar variants

All ClinVar germline ZMPSTE24 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →

24 Pathogenic · 3 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 9 Conflicting · 22 Benign · 5 Benign/Likely benign · 56 Likely benign · 78 Uncertain significance

Full ZMPSTE24 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 57

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 3

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

Predictors lean, ClinVar uncertain 46

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

Predictors split 8

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

All ZMPSTE24 variants

Pathogenic 24

Pathogenic/Likely pathogenic 3

  • p.Glu237Ter Multiple submitters mandibuloacral dysplasia with type B lipodystrophy
  • p.Gly377_Phe378insTer Multiple submitters mandibuloacral dysplasia with type B lipodystrophy
  • p.Leu178Ter Multiple submitters restrictive dermopathy

Likely pathogenic 6

Conflicting classifications of pathogenicity 9

  • c.770-14T>C Single submitter restrictive dermopathy
  • c.951_954+2del Single submitter mandibuloacral dysplasia with type B lipodystrophy
  • p.Arg369Gln Single submitter mandibuloacral dysplasia with type B lipodystrophy ⚠
  • p.Cys109Gly Single submitter mandibuloacral dysplasia with type B lipodystrophy ⚠
  • p.Glu311= Single submitter
  • p.Leu389= Single submitter restrictive dermopathy
  • p.Leu438Phe Single submitter mandibuloacral dysplasia with type B lipodystrophy ⚠
  • p.Pro53= Single submitter
  • p.Thr250= Single submitter

Benign 22

Benign/Likely benign 5

  • c.1059+18A>G Multiple submitters
  • c.954+3G>A Multiple submitters restrictive dermopathy
  • p.Glu151= Multiple submitters mandibuloacral dysplasia with type B lipodystrophy
  • p.Leu362= Multiple submitters
  • p.Phe79= Multiple submitters mandibuloacral dysplasia with type B lipodystrophy

Likely benign 56

Uncertain significance 78