Sugi Variant

Sugi Variant/SEC23A

SEC23A — 245 ClinVar variants

All ClinVar germline SEC23A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 110 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 3 Conflicting · 58 Benign · 55 Likely benign · 126 Uncertain significance

Full SEC23A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 110

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 agree, ClinVar conflicts 2

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

Predictors lean, ClinVar uncertain 91

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

Predictors split 17

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

All SEC23A variants

Pathogenic 1

  • p.Phe382Leu No assertion criteria craniolenticulosutural dysplasia

Likely pathogenic 2

  • c.1227+2T>G Single submitter craniolenticulosutural dysplasia
  • p.Glu599Lys Single submitter craniolenticulosutural dysplasia

Conflicting classifications of pathogenicity 3

Benign 58

Likely benign 55

Uncertain significance 126