Sugi Variant

Sugi Variant/KYNU

KYNU — 129 ClinVar variants

All ClinVar germline KYNU variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →

8 Pathogenic · 9 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 2 Conflicting · 7 Benign · 2 Benign/Likely benign · 21 Likely benign · 73 Uncertain significance

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

⚑ Evidence disagreements 72

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 3

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 51

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

Predictors split 17

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

All KYNU variants

Pathogenic 8

  • p.Tyr156Ter Multiple submitters Congenital NAD deficiency disorder
  • c.170-1G>T Single submitter Congenital NAD deficiency disorder
  • p.Arg330Gln Single submitter Catel-Manzke syndrome ⚠
  • p.Ile323fs Single submitter
  • c.374-433_435+369del No assertion criteria vertebral, cardiac, renal, and limb defects syndrome 2
  • p.Arg434Gln No assertion criteria vertebral, cardiac, renal, and limb defects syndrome 2
  • p.His263Arg No assertion criteria Congenital NAD deficiency disorder
  • p.Thr198Ala No assertion criteria encephalopathy due to hydroxykynureninuria ⚠

Pathogenic/Likely pathogenic 9

  • c.902+1G>A Multiple submitters vertebral, cardiac, renal, and limb defects syndrome 2
  • p.Ala164fs Multiple submitters KYNU-related disorder
  • p.Arg428Trp Multiple submitters Catel-Manzke syndrome
  • p.Phe349fs Multiple submitters vertebral, cardiac, renal, and limb defects syndrome 2
  • p.Trp109Ser Multiple submitters encephalopathy due to hydroxykynureninuria
  • p.Tyr86fs Multiple submitters vertebral, cardiac, renal, and limb defects syndrome 2
  • p.Glu206Lys No assertion criteria vertebral, cardiac, renal, and limb defects syndrome 2 ⚠
  • p.Lys121del No assertion criteria vertebral, cardiac, renal, and limb defects syndrome 2
  • p.Ser345Arg No assertion criteria Congenital NAD deficiency disorder

Likely pathogenic 7

Conflicting classifications of pathogenicity 2

Benign 7

Benign/Likely benign 2

Likely benign 21

Uncertain significance 73