Sugi Variant

Sugi Variant/TRHR

TRHR — 67 ClinVar variants

All ClinVar germline TRHR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →

2 Pathogenic · 5 Likely pathogenic · 5 Benign · 1 Benign/Likely benign · 10 Likely benign · 44 Uncertain significance

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

⚑ Evidence disagreements 42

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 35

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 TRHR variants

Pathogenic 2

  • p.Arg17Ter Single submitter hypothyroidism, congenital, nongoitrous, 7
  • p.Ile131Thr No assertion criteria hypothyroidism, congenital, nongoitrous, 7 ⚠

Likely pathogenic 5

  • p.Gln339fs Single submitter hypothyroidism, congenital, nongoitrous, 7
  • p.Phe199fs Single submitter hypothyroidism, congenital, nongoitrous, 7
  • p.Pro81Arg Single submitter hypothyroidism, congenital, nongoitrous, 7
  • p.Ser115_Ala118delinsThr Single submitter hypothyroidism, congenital, nongoitrous, 7
  • p.Tyr187Ter Single submitter hypothyroidism, congenital, nongoitrous, 7

Benign 5

Benign/Likely benign 1

Likely benign 10

Uncertain significance 44