Sugi Variant

Sugi Variant/NPPA

NPPA — 36 ClinVar variants

All ClinVar germline NPPA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →

1 Pathogenic · 2 Conflicting · 9 Benign · 2 Benign/Likely benign · 11 Likely benign · 11 Uncertain significance

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

⚑ Evidence disagreements 10

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 2

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

Predictors lean, ClinVar uncertain 8

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

All NPPA variants

Pathogenic 1

Conflicting classifications of pathogenicity 2

Benign 9

Benign/Likely benign 2

  • p.Ser64Arg Multiple submitters atrial fibrillation, familial, 6
  • p.Thr8= Multiple submitters atrial fibrillation, familial, 6

Likely benign 11

  • p.Leu125= Multiple submitters atrial standstill 2
  • p.Ser142= Multiple submitters atrial fibrillation, familial, 6
  • c.451-16T>C Single submitter atrial fibrillation, familial, 6
  • c.451-18T>A Single submitter atrial fibrillation, familial, 6
  • c.451-4G>T Single submitter atrial fibrillation, familial, 6
  • c.451-8C>T Single submitter atrial fibrillation, familial, 6
  • c.451-9T>G Single submitter atrial fibrillation, familial, 6
  • p.Gly85= Single submitter atrial fibrillation, familial, 6
  • p.Gly98Arg Single submitter atrial fibrillation, familial, 6
  • p.Pro66= Single submitter atrial fibrillation, familial, 6
  • p.Ser129= Single submitter atrial fibrillation, familial, 6

Uncertain significance 11