Sugi Variant

Sugi Variant/CPAP

CPAP — 690 ClinVar variants

All ClinVar germline CPAP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 259 flagged for review →

48 Pathogenic · 12 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 41 Conflicting · 58 Benign · 14 Benign/Likely benign · 201 Likely benign · 295 Uncertain significance

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

⚑ Evidence disagreements 259

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 agree, ClinVar conflicts 14

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 173

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 173

Predictors split 70

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

All CPAP variants

Pathogenic 48

Pathogenic/Likely pathogenic 12

  • p.Arg566Ter Multiple submitters microcephaly 6, primary, autosomal recessive
  • p.Arg902Ter Multiple submitters
  • p.Arg958Ter Multiple submitters microcephaly 6, primary, autosomal recessive
  • p.Gln14Ter Multiple submitters Seckel syndrome 4
  • p.Gln169fs Multiple submitters microcephaly 6, primary, autosomal recessive
  • p.Gln657Ter Multiple submitters Seckel syndrome 4
  • p.Glu1225fs Multiple submitters microcephaly 6, primary, autosomal recessive
  • p.Glu212Ter Multiple submitters microcephaly 6, primary, autosomal recessive
  • p.Glu300fs Multiple submitters autosomal recessive primary microcephaly
  • p.Glu955Ter Multiple submitters microcephaly 6, primary, autosomal recessive
  • p.Ser1081fs Multiple submitters lissencephaly spectrum disorders
  • p.Ser529Ter Multiple submitters microcephaly 6, primary, autosomal recessive

Likely pathogenic 21

Conflicting classifications of pathogenicity 41

Benign 58

Benign/Likely benign 14

Likely benign 201

Uncertain significance 295