Sugi Variant

Sugi Variant/SPTAN1

SPTAN1 — 3223 ClinVar variants

All ClinVar germline SPTAN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1274 flagged for review →

50 Pathogenic · 15 Pathogenic/Likely pathogenic · 75 Likely pathogenic · 214 Conflicting · 138 Benign · 106 Benign/Likely benign · 1283 Likely benign · 1342 Uncertain significance

Full SPTAN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1274

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 8

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

Predictors agree, ClinVar conflicts 114

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

Predicted LoF vs a conflicting call 8

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 762

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 762

Predictors split 382

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 382

All SPTAN1 variants

Pathogenic 50

Pathogenic/Likely pathogenic 15

Likely pathogenic 75

Conflicting classifications of pathogenicity 214

Benign 138

Benign/Likely benign 106

Likely benign 1283

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

Uncertain significance 1342

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