Sugi Variant

Sugi Variant/LARS1

LARS1 — 566 ClinVar variants

All ClinVar germline LARS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 197 flagged for review →

14 Pathogenic · 1 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 17 Conflicting · 119 Benign · 17 Benign/Likely benign · 177 Likely benign · 207 Uncertain significance

Full LARS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 197

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 10

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

Predictors lean, ClinVar uncertain 144

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

Predictors split 39

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

All LARS1 variants

Pathogenic 14

Pathogenic/Likely pathogenic 1

Likely pathogenic 14

  • c.1738+1G>A Single submitter
  • c.3325+1del Single submitter infantile liver failure syndrome 1
  • c.771+2T>G Single submitter
  • p.Ala798fs Single submitter
  • p.Asn963fs Single submitter
  • p.Cys248Phe Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Gln221Ter Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Glu1022Gln Single submitter ⚠
  • p.Gly436Ser Single submitter ⚠
  • p.Ile451Phe Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Lys927fs Single submitter infantile liver failure syndrome 1
  • p.Pro242Leu Single submitter
  • p.Trp585Ter Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Tyr939Cys Single submitter ⚠

Conflicting classifications of pathogenicity 17

Benign 119

Benign/Likely benign 17

Likely benign 177

Uncertain significance 207