Sugi Variant

Sugi Variant/THOC2

THOC2 — 339 ClinVar variants

All ClinVar germline THOC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 207 flagged for review →

6 Pathogenic · 2 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 3 Conflicting · 15 Benign · 13 Benign/Likely benign · 60 Likely benign · 224 Uncertain significance

Full THOC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 207

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 2

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

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 141

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

Predictors split 62

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

All THOC2 variants

Pathogenic 6

  • c.4450-2A>G Single submitter X-linked intellectual disability-short stature-overweight syndrome
  • p.Gly713Asp No assertion criteria X-linked intellectual disability-short stature-overweight syndrome ⚠
  • p.Ile800Thr No assertion criteria X-linked intellectual disability-short stature-overweight syndrome ⚠
  • p.Leu313Phe No assertion criteria X-linked intellectual disability-short stature-overweight syndrome ⚠
  • p.Leu438Pro No assertion criteria X-linked intellectual disability-short stature-overweight syndrome
  • p.Ser1012Pro No assertion criteria X-linked intellectual disability-short stature-overweight syndrome

Pathogenic/Likely pathogenic 2

  • p.Thr696Ile Multiple submitters X-linked intellectual disability-short stature-overweight syndrome
  • p.His1187Tyr No assertion criteria X-linked intellectual disability-short stature-overweight syndrome ⚠

Likely pathogenic 16

  • c.2482-1_2484del Multiple submitters THOC2-related disorder
  • p.Cys615Tyr Multiple submitters X-linked intellectual disability-short stature-overweight syndrome
  • p.Ala621Asp Single submitter ⚠
  • p.Ala648Ser Single submitter X-linked intellectual disability-short stature-overweight syndrome ⚠
  • p.Arg1075Trp Single submitter THOC2-related disorder
  • p.Arg930Cys Single submitter
  • p.Glu940Lys Single submitter Inborn genetic diseases ⚠
  • p.Ser1108Leu Single submitter X-linked intellectual disability-short stature-overweight syndrome
  • p.Trp12Arg Single submitter X-linked intellectual disability-short stature-overweight syndrome ⚠
  • p.Tyr50Ser Single submitter X-linked intellectual disability-short stature-overweight syndrome ⚠
  • p.Tyr881Cys Single submitter X-linked intellectual disability-short stature-overweight syndrome
  • p.Tyr899Cys Single submitter X-linked intellectual disability-short stature-overweight syndrome
  • p.Tyr899His Single submitter X-linked intellectual disability-short stature-overweight syndrome
  • c.3503+4A>C No assertion criteria X-linked intellectual disability-short stature-overweight syndrome
  • p.Thr1072Ile No assertion criteria THOC2-related disorder ⚠
  • p.Tyr1102Cys No assertion criteria X-linked intellectual disability-short stature-overweight syndrome

Conflicting classifications of pathogenicity 3

  • p.Arg77Cys Single submitter Inborn genetic diseases ⚠
  • p.Asn666Asp No assertion criteria X-linked intellectual disability-short stature-overweight syndrome ⚠
  • p.Tyr517Cys No assertion criteria X-linked intellectual disability-short stature-overweight syndrome ⚠

Benign 15

Benign/Likely benign 13

Likely benign 60

Uncertain significance 224