Sugi Variant

Sugi Variant/TMCO1

TMCO1 — 85 ClinVar variants

All ClinVar germline TMCO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →

8 Pathogenic · 3 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 12 Benign · 3 Benign/Likely benign · 22 Likely benign · 28 Uncertain significance

Full TMCO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 25

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 17

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

Predictors split 8

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

All TMCO1 variants

Pathogenic 8

  • p.Arg63Ter Multiple submitters craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
  • c.208+1G>T Single submitter craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
  • c.323+3G>C Single submitter craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
  • p.Arg131Ter Single submitter Inborn genetic diseases
  • p.Arg87Ter Single submitter craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
  • p.Gly24Arg Single submitter craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
  • p.Tyr124Ter Single submitter Inborn genetic diseases
  • p.Val30fs Single submitter craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1

Pathogenic/Likely pathogenic 3

  • p.Arg155Ter Multiple submitters Cerebro-facio-thoracic dysplasia
  • p.Gln126Ter Multiple submitters craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
  • p.Gln46_Ser47insTer Multiple submitters TMCO1-related disorder

Likely pathogenic 9

  • c.256-1G>C Single submitter TMCO1-related disorder
  • c.71-2A>G Single submitter
  • c.-33del Single submitter craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
  • c.-54_-35dup Single submitter craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
  • p.Ala165fs Single submitter
  • p.Glu44fs Single submitter TMCO1-related disorder
  • p.Gly24Ser Single submitter craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
  • p.Leu50fs Single submitter
  • p.Thr120Ter Single submitter

Benign 12

Benign/Likely benign 3

  • c.256-12G>A Multiple submitters craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
  • c.324-8dup Multiple submitters
  • c.-66T>C Multiple submitters

Likely benign 22

Uncertain significance 28