Sugi Variant

Sugi Variant/SPRTN

SPRTN — 70 ClinVar variants

All ClinVar germline SPRTN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →

3 Pathogenic · 1 Likely pathogenic · 6 Benign · 11 Likely benign · 49 Uncertain significance

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

⚑ Evidence disagreements 48

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 39

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 SPRTN variants

Pathogenic 3

  • c.718_718+3del Single submitter progeroid features-hepatocellular carcinoma predisposition syndrome
  • p.Lys241fs No assertion criteria progeroid features-hepatocellular carcinoma predisposition syndrome
  • p.Tyr117Cys No assertion criteria progeroid features-hepatocellular carcinoma predisposition syndrome

Likely pathogenic 1

Benign 6

  • c.451-33T>C Multiple submitters progeroid features-hepatocellular carcinoma predisposition syndrome
  • p.Pro178= Multiple submitters
  • p.Pro296Leu Multiple submitters progeroid features-hepatocellular carcinoma predisposition syndrome
  • p.Thr439Ser Multiple submitters
  • p.Gln55= Single submitter
  • p.Val302Met Single submitter

Likely benign 11

Uncertain significance 49