HSPE1 — 6 ClinVar variants
All ClinVar germline HSPE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 4 flagged for review →
1 Likely benign · 5 Uncertain significance
Full HSPE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 4
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 lean, ClinVar uncertain 2
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 2
The independent predictors disagree with each other — read with care.
All HSPE1 variants
Likely benign 1
- p.Val46= Single submitter
Uncertain significance 5
- p.Asp93Val Single submitter ⚠
- p.Leu83Ile Single submitter ⚠
- p.Lys70Thr Single submitter ⚠
- p.Tyr100His Single submitter ⚠
- p.Ser37Cys No assertion criteria HSPE1-related condition