Sugi Variant

Sugi Variant/SECISBP2

SECISBP2 — 160 ClinVar variants

All ClinVar germline SECISBP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 113 flagged for review →

7 Pathogenic · 9 Likely pathogenic · 1 Conflicting · 5 Benign · 1 Benign/Likely benign · 19 Likely benign · 118 Uncertain significance

Full SECISBP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 113

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 1

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

Predictors lean, ClinVar uncertain 103

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 SECISBP2 variants

Pathogenic 7

  • c.1089+2T>C Single submitter thyroid hormone metabolism, abnormal 1
  • p.Arg120Ter Single submitter thyroid hormone metabolism, abnormal 1
  • p.Arg770Ter Single submitter thyroid hormone metabolism, abnormal 1
  • p.Glu386fs Single submitter thyroid hormone metabolism, abnormal 1
  • c.1212+29G>A No assertion criteria thyroid hormone metabolism, abnormal 1
  • p.Gly268_Glu269insTer No assertion criteria thyroid hormone metabolism, abnormal 1
  • p.Lys438Ter No assertion criteria thyroid hormone metabolism, abnormal 1

Likely pathogenic 9

Conflicting classifications of pathogenicity 1

  • p.Arg540Gln No assertion criteria thyroid hormone metabolism, abnormal 1 ⚠

Benign 5

Benign/Likely benign 1

  • p.Val641= No assertion criteria SECISBP2-related disorder

Likely benign 19

Uncertain significance 118