Sugi Variant

Sugi Variant/THOC6

THOC6 — 122 ClinVar variants

All ClinVar germline THOC6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →

8 Pathogenic · 8 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 1 Conflicting · 3 Benign · 1 Benign/Likely benign · 22 Likely benign · 70 Uncertain significance

Full THOC6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 67

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 55

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

Predictors split 11

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

All THOC6 variants

Pathogenic 8

  • p.Arg87Ter Multiple submitters Inborn genetic diseases
  • c.587-2A>G Single submitter THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
  • p.Gln149Ter Single submitter THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
  • p.Gln47Ter Single submitter THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
  • p.Pro298fs Single submitter
  • p.Val280fs Single submitter Inborn genetic diseases
  • p.Gln204Pro No assertion criteria THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
  • p.Thr265fs No assertion criteria THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

Pathogenic/Likely pathogenic 8

  • c.155+1G>T Multiple submitters THOC6-related disorder
  • c.810+1G>A Multiple submitters THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
  • p.Arg115fs Multiple submitters THOC6-related disorder
  • p.Arg247Ter Multiple submitters THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
  • p.Gly190Glu Multiple submitters THOC6-related disorder
  • p.Gly275Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Trp100Arg Multiple submitters Inborn genetic diseases
  • p.Tyr45Ter No assertion criteria THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

Likely pathogenic 9

  • p.Gly46Arg Multiple submitters THOC6-related disorder
  • c.156-2del Single submitter THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
  • c.363-2A>C Single submitter THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
  • p.Arg193Ter Single submitter THOC6-related disorder
  • p.Glu15fs Single submitter THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
  • p.Ser185Pro Single submitter
  • p.Tyr170Ter Single submitter THOC6-related disorder
  • p.Cys279Ter No assertion criteria THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
  • p.Trp100Ter No assertion criteria THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

Conflicting classifications of pathogenicity 1

  • p.Val234Leu Single submitter dystonia, early-onset, and/or spastic paraplegia ⚠

Benign 3

  • c.220+10C>G Multiple submitters THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
  • c.40-8C>T Multiple submitters THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
  • p.Asn130= Multiple submitters

Benign/Likely benign 1

Likely benign 22

Uncertain significance 70