Sugi Variant

Sugi Variant/WARS1

WARS1 — 143 ClinVar variants

All ClinVar germline WARS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 80 flagged for review →

1 Pathogenic · 4 Likely pathogenic · 6 Conflicting · 15 Benign · 3 Benign/Likely benign · 30 Likely benign · 84 Uncertain significance

Full WARS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 80

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 6

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

Predictors lean, ClinVar uncertain 49

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

Predictors split 24

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

All WARS1 variants

Pathogenic 1

  • p.Met1Val No assertion criteria neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities

Likely pathogenic 4

  • p.Asp419Asn Multiple submitters neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities ⚠
  • p.Glu408Ter Single submitter neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
  • p.Gly276Glu Single submitter neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
  • p.Trp88Ter Single submitter neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities

Conflicting classifications of pathogenicity 6

Benign 15

Benign/Likely benign 3

Likely benign 30

Uncertain significance 84