Sugi Variant

Sugi Variant/CARS1

CARS1 — 213 ClinVar variants

All ClinVar germline CARS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 117 flagged for review →

5 Pathogenic · 2 Likely pathogenic · 1 Conflicting · 10 Benign · 4 Benign/Likely benign · 45 Likely benign · 146 Uncertain significance

Full CARS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 117

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 lean, ClinVar uncertain 83

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

Predictors split 34

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

All CARS1 variants

Pathogenic 5

  • p.Ser79fs Single submitter microcephaly, developmental delay, and brittle hair syndrome
  • p.Gln463Ter No assertion criteria microcephaly, developmental delay, and brittle hair syndrome
  • p.Leu483Gln No assertion criteria microcephaly, developmental delay, and brittle hair syndrome
  • p.Ser442Leu No assertion criteria microcephaly, developmental delay, and brittle hair syndrome
  • p.Ser771fs No assertion criteria microcephaly, developmental delay, and brittle hair syndrome

Likely pathogenic 2

  • c.367-14C>G Single submitter microcephaly, developmental delay, and brittle hair syndrome
  • p.Arg424His Single submitter microcephaly, developmental delay, and brittle hair syndrome

Conflicting classifications of pathogenicity 1

  • p.Phe652Tyr Single submitter microcephaly, developmental delay, and brittle hair syndrome

Benign 10

Benign/Likely benign 4

Likely benign 45

Uncertain significance 146