Sugi Variant

Sugi Variant/NARS2

NARS2 — 401 ClinVar variants

All ClinVar germline NARS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 150 flagged for review →

17 Pathogenic · 5 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 22 Conflicting · 45 Benign · 11 Benign/Likely benign · 134 Likely benign · 156 Uncertain significance

Full NARS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 150

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 12

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

Predictors lean, ClinVar uncertain 102

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

Predictors split 33

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

All NARS2 variants

Pathogenic 17

  • p.Arg140Ter Multiple submitters combined oxidative phosphorylation defect type 24
  • p.Tyr412Ter Multiple submitters combined oxidative phosphorylation defect type 24
  • c.595-1G>A Single submitter combined oxidative phosphorylation defect type 24
  • c.822+2T>G Single submitter
  • p.Ala77fs Single submitter
  • p.Asn317delinsIleCysTer Single submitter combined oxidative phosphorylation defect type 24
  • p.Cys298fs Single submitter
  • p.Glu58Ter Single submitter
  • p.Ile115fs Single submitter
  • p.Ile182Lys Single submitter combined oxidative phosphorylation defect type 24
  • p.Val4fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
  • p.Val53fs Single submitter
  • c.594+1G>A No assertion criteria combined oxidative phosphorylation defect type 24
  • c.922-21_922-19del No assertion criteria mitochondrial disease
  • p.Gln274His No assertion criteria combined oxidative phosphorylation defect type 24 ⚠
  • p.Leu395Arg No assertion criteria combined oxidative phosphorylation defect type 24
  • p.Phe236Cys No assertion criteria combined oxidative phosphorylation defect type 24 ⚠

Pathogenic/Likely pathogenic 5

  • p.Arg243Ter Multiple submitters hearing loss, autosomal recessive 94
  • p.Asn316fs Multiple submitters combined oxidative phosphorylation defect type 24
  • p.Asn317= Multiple submitters
  • p.Asp187_Ser188insTer Multiple submitters combined oxidative phosphorylation defect type 24
  • p.Tyr323Ter Multiple submitters combined oxidative phosphorylation defect type 24

Likely pathogenic 11

Conflicting classifications of pathogenicity 22

Benign 45

Benign/Likely benign 11

Likely benign 134

Uncertain significance 156