Sugi Variant

Sugi Variant/CNTNAP1

CNTNAP1 — 622 ClinVar variants

All ClinVar germline CNTNAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 283 flagged for review →

28 Pathogenic · 18 Likely pathogenic · 11 Conflicting · 50 Benign · 10 Benign/Likely benign · 213 Likely benign · 292 Uncertain significance

Full CNTNAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 283

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 8

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

Predictors lean, ClinVar uncertain 172

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 172

Predictors split 103

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

All CNTNAP1 variants

Pathogenic 28

Likely pathogenic 18

  • c.1044+1G>A Single submitter
  • c.2060-1G>A Single submitter CNTNAP1-related disorder
  • c.2344+1G>A Single submitter
  • c.3814+1G>C Single submitter neuropathy, congenital hypomyelinating, 3
  • p.Arg697Ter Single submitter
  • p.Cys25Phe Single submitter
  • p.Cys323Arg Single submitter neuropathy, congenital hypomyelinating, 3
  • p.Gln1132Ter Single submitter Congenital hypomyelination neuropathy with or without arthrogryposis
  • p.Gln244Ter Single submitter lethal congenital contracture syndrome 7
  • p.Gly349Val Single submitter lethal congenital contracture syndrome 7
  • p.Leu608fs Single submitter lethal congenital contracture syndrome 7
  • p.Tyr482Ter Single submitter neuropathy, congenital hypomyelinating, 3
  • p.Val636Met Single submitter arthrogryposis multiplex congenita
  • c.1_1629-1del No assertion criteria CNTNAP1-related disorder
  • p.Cys1250Ter No assertion criteria neuropathy, congenital hypomyelinating, 3
  • p.Ser343fs No assertion criteria CNTNAP1-related disorder
  • p.Thr815Asn No assertion criteria lethal congenital contracture syndrome 7
  • p.Val928fs No assertion criteria CNTNAP1-related disorder

Conflicting classifications of pathogenicity 11

Benign 50

Benign/Likely benign 10

Likely benign 213

Uncertain significance 292