Sugi Variant

Sugi Variant/NOBOX

NOBOX — 211 ClinVar variants

All ClinVar germline NOBOX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 127 flagged for review →

9 Pathogenic · 7 Likely pathogenic · 7 Conflicting · 22 Benign · 4 Benign/Likely benign · 29 Likely benign · 133 Uncertain significance

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

⚑ Evidence disagreements 127

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 4

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

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 108

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

Predictors split 9

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

All NOBOX variants

Pathogenic 9

  • p.Arg218Ter Multiple submitters premature ovarian failure 5
  • c.696+23_696+24dup Single submitter
  • p.Pro324fs Single submitter
  • p.Val320fs Single submitter premature ovarian failure 5
  • c.696+74G>C No assertion criteria premature ovarian failure 5 ⚠
  • p.Ala564fs No assertion criteria Genetic non-acquired premature ovarian failure
  • p.Gly261fs No assertion criteria Genetic non-acquired premature ovarian failure
  • p.Phe442fs No assertion criteria Genetic non-acquired premature ovarian failure
  • p.Val233Leu No assertion criteria premature ovarian failure 5 ⚠

Likely pathogenic 7

  • p.Arg243Ter Single submitter premature ovarian failure 5
  • p.Cys380fs Single submitter NOBOX-related disorder
  • p.Cys40Ter Single submitter premature ovarian failure 5
  • p.Glu27Ter Single submitter NOBOX-related disorder
  • p.Lys363Asn Single submitter primary ovarian failure ⚠
  • p.Gly316Val No assertion criteria Genetic non-acquired premature ovarian failure ⚠
  • p.Pro283Leu No assertion criteria Genetic non-acquired premature ovarian failure ⚠

Conflicting classifications of pathogenicity 7

Benign 22

Benign/Likely benign 4

  • c.86-8C>T Multiple submitters premature ovarian failure 5
  • p.Arg32Trp Multiple submitters premature ovarian failure 1
  • p.Arg44Leu Multiple submitters premature ovarian failure 5
  • p.Gly67Arg Multiple submitters premature ovarian failure 5

Likely benign 29

Uncertain significance 133