Sugi Variant

Sugi Variant/NRCAM

NRCAM — 248 ClinVar variants

All ClinVar germline NRCAM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 184 flagged for review →

9 Pathogenic · 6 Likely pathogenic · 1 Conflicting · 8 Benign · 25 Likely benign · 199 Uncertain significance

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

⚑ Evidence disagreements 184

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 1

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

Predictors lean, ClinVar uncertain 149

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

Predictors split 33

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

All NRCAM variants

Pathogenic 9

  • p.Glu1152Ter Single submitter
  • p.Leu968fs Single submitter neurodevelopmental disorder with neuromuscular and skeletal abnormalities
  • p.Arg929Ter No assertion criteria NRCAM-related disorder
  • p.Asn469Ser No assertion criteria neurodevelopmental disorder with neuromuscular and skeletal abnormalities ⚠
  • p.Asp55Gly No assertion criteria NRCAM-related disorder ⚠
  • p.Glu111Ter No assertion criteria NRCAM-related disorder
  • p.Gly197Asp No assertion criteria neurodevelopmental disorder with neuromuscular and skeletal abnormalities ⚠
  • p.Gly913Asp No assertion criteria NRCAM-related disorder
  • p.Thr766fs No assertion criteria NRCAM-related disorder

Likely pathogenic 6

  • c.2647-2A>G Single submitter NRCAM-related disorder
  • p.Lys9fs Single submitter neurodevelopmental disorder with neuromuscular and skeletal abnormalities
  • p.Ser1147Ter Single submitter neurodevelopmental disorder with neuromuscular and skeletal abnormalities
  • p.Trp767fs Single submitter NRCAM-related disorder
  • p.Val1063fs Single submitter neurodevelopmental disorder with neuromuscular and skeletal abnormalities
  • c.230+824G>C No assertion criteria NRCAM-related disorder

Conflicting classifications of pathogenicity 1

Benign 8

Likely benign 25

Uncertain significance 199