Sugi Variant

Sugi Variant/CCDC47

CCDC47 — 68 ClinVar variants

All ClinVar germline CCDC47 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 5 Benign · 6 Likely benign · 50 Uncertain significance

Full CCDC47 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 49

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 29

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

Predictors split 20

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

All CCDC47 variants

Pathogenic 1

  • p.Asn188fs Single submitter trichohepatoneurodevelopmental syndrome

Pathogenic/Likely pathogenic 1

  • p.Arg397Ter Multiple submitters Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair

Likely pathogenic 5

  • p.Ala411_Arg412insLysSerArgTer Single submitter trichohepatoneurodevelopmental syndrome
  • p.Arg271Ter Single submitter Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair
  • p.Glu190fs Single submitter trichohepatoneurodevelopmental syndrome
  • p.Leu382fs Single submitter Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair
  • p.Ser389fs Single submitter Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair

Benign 5

  • c.1093+112G>A Multiple submitters trichohepatoneurodevelopmental syndrome
  • c.1094-3C>T Multiple submitters
  • c.735+15C>T Multiple submitters trichohepatoneurodevelopmental syndrome
  • c.-10T>A No assertion criteria CCDC47-related disorder
  • p.Gln453= No assertion criteria CCDC47-related disorder

Likely benign 6

Uncertain significance 50