Sugi Variant

Sugi Variant/NPRL2

NPRL2 — 169 ClinVar variants

All ClinVar germline NPRL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 96 flagged for review →

12 Pathogenic · 3 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 9 Conflicting · 4 Benign · 2 Benign/Likely benign · 24 Likely benign · 101 Uncertain significance

Full NPRL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 96

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 6

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

Predictors lean, ClinVar uncertain 79

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

Predictors split 11

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

All NPRL2 variants

Pathogenic 12

  • p.Gln283Ter Multiple submitters Inborn genetic diseases
  • p.Gly20fs Multiple submitters epilepsy, familial focal, with variable foci 2
  • c.170+1G>C Single submitter Seizure
  • c.585+1G>A Single submitter epilepsy, familial focal, with variable foci 2
  • p.Gln252Ter Single submitter epilepsy, familial focal, with variable foci 2
  • p.Gln315Ter Single submitter
  • p.Glu123Ter Single submitter Seizure
  • p.Gly317fs Single submitter epilepsy, familial focal, with variable foci 2
  • p.Lys94fs Single submitter Inborn genetic diseases
  • p.Ser13fs Single submitter
  • p.Ile23fs No assertion criteria epilepsy, familial focal, with variable foci 2
  • p.Leu105Pro No assertion criteria epilepsy, familial focal, with variable foci 2

Pathogenic/Likely pathogenic 3

  • c.932+1G>A Multiple submitters epilepsy, familial focal, with variable foci 2
  • p.Arg295Ter Multiple submitters epilepsy, familial focal, with variable foci 2
  • p.Glu72Ter Multiple submitters epilepsy, familial focal, with variable foci 2

Likely pathogenic 14

  • c.170+5G>A Single submitter
  • c.445_448+3del Single submitter epilepsy, familial focal, with variable foci 2
  • c.79-1G>T Single submitter Neonatal respiratory distress
  • c.814+2T>C Single submitter epilepsy, familial focal, with variable foci 2
  • p.Arg78His Single submitter epilepsy, familial focal, with variable foci 2
  • p.Asp165fs Single submitter epilepsy, familial focal, with variable foci 2
  • p.Gln188Ter Single submitter epilepsy, familial focal, with variable foci 2
  • p.Gln261Ter Single submitter epilepsy, familial focal, with variable foci 2
  • p.Gln303fs Single submitter familial focal epilepsy with variable foci
  • p.Gln303Ter Single submitter isolated focal cortical dysplasia type IIa
  • p.Met1Ile Single submitter
  • p.Ser289fs Single submitter epilepsy, familial focal, with variable foci 2
  • p.Thr18fs Single submitter epilepsy, familial focal, with variable foci 2
  • p.Ile134fs No assertion criteria NPRL2-related disorder

Conflicting classifications of pathogenicity 9

Benign 4

Benign/Likely benign 2

Likely benign 24

Uncertain significance 101