Sugi Variant

Sugi Variant/VARS2

VARS2 — 507 ClinVar variants

All ClinVar germline VARS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 210 flagged for review →

14 Pathogenic · 4 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 19 Conflicting · 64 Benign · 16 Benign/Likely benign · 143 Likely benign · 229 Uncertain significance

Full VARS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 210

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 1

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

Predictors agree, ClinVar conflicts 9

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

Predictors lean, ClinVar uncertain 138

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

Predictors split 62

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

All VARS2 variants

Pathogenic 14

  • p.Arg1002Ter Multiple submitters Inborn genetic diseases
  • p.Thr337Ile Multiple submitters Inborn genetic diseases
  • p.Arg407Ter Single submitter Inborn genetic diseases
  • p.Arg917Ter Single submitter
  • p.Arg928Ter Single submitter
  • p.Gln191Ter Single submitter
  • p.Glu223Ter Single submitter combined oxidative phosphorylation defect type 20
  • p.Met141fs Single submitter combined oxidative phosphorylation defect type 20
  • p.Phe481fs Single submitter combined oxidative phosphorylation defect type 20
  • p.Trp521Ter Single submitter
  • p.Trp550Ter Single submitter
  • p.Ala349Thr No assertion criteria combined oxidative phosphorylation defect type 20
  • p.Asp354Asn No assertion criteria combined oxidative phosphorylation defect type 20
  • p.Tyr920His No assertion criteria combined oxidative phosphorylation defect type 20 ⚠

Pathogenic/Likely pathogenic 4

  • c.2467-2A>G Multiple submitters combined oxidative phosphorylation defect type 20
  • p.Arg173fs Multiple submitters
  • p.Arg363Ter Multiple submitters combined oxidative phosphorylation defect type 20
  • p.Glu486Ter Multiple submitters Inborn genetic diseases

Likely pathogenic 18

  • c.1480-2A>G Multiple submitters combined oxidative phosphorylation defect type 20
  • p.Tyr84fs Multiple submitters combined oxidative phosphorylation defect type 20
  • c.1556+1G>A Single submitter
  • c.2785+1G>A Single submitter mitochondrial disease
  • c.3090+2T>A Single submitter
  • c.671+1G>A Single submitter
  • c.753+2T>A Single submitter
  • p.Arg356Ter Single submitter combined oxidative phosphorylation defect type 20
  • p.Arg467Pro Single submitter combined oxidative phosphorylation defect type 20
  • p.Glu898Ter Single submitter combined oxidative phosphorylation defect type 20
  • p.Gly420Arg Single submitter combined oxidative phosphorylation defect type 20
  • p.Gly450fs Single submitter combined oxidative phosphorylation defect type 20
  • p.Gly488del Single submitter combined oxidative phosphorylation defect type 20
  • p.His542fs Single submitter
  • p.Leu961fs Single submitter combined oxidative phosphorylation defect type 20
  • p.Pro876fs Single submitter VARS2-related disorder
  • p.Ser280fs Single submitter combined oxidative phosphorylation defect type 20
  • p.Trp528Ter Single submitter combined oxidative phosphorylation defect type 20

Conflicting classifications of pathogenicity 19

Benign 64

Benign/Likely benign 16

Likely benign 143

Uncertain significance 229