Sugi Variant

Sugi Variant/SPTA1

SPTA1 — 1634 ClinVar variants

All ClinVar germline SPTA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 833 flagged for review →

65 Pathogenic · 35 Pathogenic/Likely pathogenic · 121 Likely pathogenic · 227 Conflicting · 100 Benign · 59 Benign/Likely benign · 203 Likely benign · 824 Uncertain significance

Full SPTA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 833

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 4

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

Predictors agree, ClinVar conflicts 128

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

Predictors lean, ClinVar uncertain 568

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 568

Predictors split 133

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

All SPTA1 variants

Pathogenic 65

Pathogenic/Likely pathogenic 35

Likely pathogenic 121

Conflicting classifications of pathogenicity 227

Benign 100

Benign/Likely benign 59

Likely benign 203

Uncertain significance 824

Showing the top 300 by review status; the full set is in the sitemap.