Sugi Variant

Sugi Variant/HSPD1

HSPD1 — 348 ClinVar variants

All ClinVar germline HSPD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 156 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 13 Conflicting · 21 Benign · 6 Benign/Likely benign · 113 Likely benign · 186 Uncertain significance

Full HSPD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 156

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 6

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

Predictors lean, ClinVar uncertain 105

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

Predictors split 43

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

All HSPD1 variants

Pathogenic 2

Pathogenic/Likely pathogenic 1

Likely pathogenic 6

Conflicting classifications of pathogenicity 13

Benign 21

Benign/Likely benign 6

  • c.1216-9C>T Multiple submitters Spastic paraplegia
  • c.700+8C>T Multiple submitters Spastic paraplegia
  • p.Asn482= Multiple submitters Spastic paraplegia
  • p.Phe128= Multiple submitters Spastic paraplegia
  • p.Ser187= Multiple submitters Spastic paraplegia
  • p.Thr6= Multiple submitters Spastic paraplegia

Likely benign 113

Uncertain significance 186