Sugi Variant

Sugi Variant/TSHB

TSHB — 83 ClinVar variants

All ClinVar germline TSHB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →

6 Pathogenic · 3 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 1 Conflicting · 2 Benign · 4 Benign/Likely benign · 34 Likely benign · 30 Uncertain significance

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

⚑ Evidence disagreements 29

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 22

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

Predictors split 7

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

All TSHB variants

Pathogenic 6

  • c.162+5G>A Multiple submitters isolated thyroid-stimulating hormone deficiency
  • p.Cys125fs Multiple submitters isolated thyroid-stimulating hormone deficiency
  • p.Asp76fs Single submitter
  • p.Ile84fs Single submitter
  • p.Leu10fs Single submitter
  • p.Glu32Ter No assertion criteria isolated thyroid-stimulating hormone deficiency

Pathogenic/Likely pathogenic 3

  • p.Gln69Ter Multiple submitters TSHB-related disorder
  • p.Gly49Arg Multiple submitters isolated thyroid-stimulating hormone deficiency
  • p.Phe77fs Multiple submitters isolated thyroid-stimulating hormone deficiency

Likely pathogenic 3

  • p.Ala37fs Single submitter isolated thyroid-stimulating hormone deficiency
  • p.Cys105Ter Single submitter isolated thyroid-stimulating hormone deficiency
  • p.Met1_Thr2del Single submitter isolated thyroid-stimulating hormone deficiency

Conflicting classifications of pathogenicity 1

  • c.*64T>C Single submitter isolated thyroid-stimulating hormone deficiency

Benign 2

Benign/Likely benign 4

  • c.162+16C>T Multiple submitters
  • p.Arg75Gly Multiple submitters isolated thyroid-stimulating hormone deficiency
  • p.Thr14Ala Multiple submitters isolated thyroid-stimulating hormone deficiency
  • p.Val99Ala Multiple submitters ⚠

Likely benign 34

Uncertain significance 30