Sugi Variant

Sugi Variant/NCAPH

NCAPH — 138 ClinVar variants

All ClinVar germline NCAPH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 103 flagged for review →

1 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 5 Benign · 2 Benign/Likely benign · 20 Likely benign · 108 Uncertain significance

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

⚑ Evidence disagreements 103

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 1

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

Predictors lean, ClinVar uncertain 93

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

Predictors split 9

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

All NCAPH variants

Pathogenic 1

  • p.Pro243Leu No assertion criteria microcephaly 23, primary, autosomal recessive ⚠

Likely pathogenic 1

  • c.19+1G>C Single submitter microcephaly 23, primary, autosomal recessive

Conflicting classifications of pathogenicity 1

Benign 5

  • p.Arg221Gly Multiple submitters
  • p.Asp377= Multiple submitters microcephaly 23, primary, autosomal recessive
  • p.Val539Ala Multiple submitters microcephaly 23, primary, autosomal recessive
  • c.2091-4C>G No assertion criteria NCAPH-related disorder
  • p.Ile99Val No assertion criteria NCAPH-related disorder

Benign/Likely benign 2

Likely benign 20

Uncertain significance 108