Sugi Variant

Sugi Variant/NOVA2

NOVA2 — 131 ClinVar variants

All ClinVar germline NOVA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →

8 Pathogenic · 3 Likely pathogenic · 4 Conflicting · 3 Benign · 2 Benign/Likely benign · 27 Likely benign · 84 Uncertain significance

Full NOVA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 69

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 4

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

Predictors lean, ClinVar uncertain 40

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

Predictors split 25

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

All NOVA2 variants

Pathogenic 8

  • p.Leu175fs Single submitter neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
  • p.Leu252fs Single submitter
  • p.Tyr330fs Single submitter neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
  • p.Val261fs Single submitter Severe intellectual disability
  • p.Ala241fs No assertion criteria neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
  • p.Ala244fs No assertion criteria intellectual disability
  • p.Leu238fs No assertion criteria neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
  • p.Val237fs No assertion criteria neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities

Likely pathogenic 3

  • p.Gly219fs Single submitter neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
  • p.Gly369fs Single submitter NOVA2-related disorder
  • p.Leu276fs Single submitter NOVA2-related disorder

Conflicting classifications of pathogenicity 4

  • p.Ala331Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala334Thr Single submitter Inborn genetic diseases ⚠
  • p.Thr124Met Single submitter neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities ⚠
  • p.Val156Met Single submitter neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities ⚠

Benign 3

  • p.Ala287= Multiple submitters neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
  • p.Leu238= Multiple submitters neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
  • c.-157C>T Single submitter

Benign/Likely benign 2

Likely benign 27

Uncertain significance 84