Sugi Variant

Sugi Variant/FAR1

FAR1 — 425 ClinVar variants

All ClinVar germline FAR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 168 flagged for review →

7 Pathogenic · 2 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 4 Conflicting · 19 Benign · 7 Benign/Likely benign · 184 Likely benign · 196 Uncertain significance

Full FAR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 168

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 agree, ClinVar conflicts 2

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

Predictors lean, ClinVar uncertain 145

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

Predictors split 21

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

All FAR1 variants

Pathogenic 7

Pathogenic/Likely pathogenic 2

  • p.Arg480Cys Multiple submitters FAR1-related neurodevelopmental disorder ⚠
  • p.Arg480His Multiple submitters spastic paraparesis-cataracts-speech delay syndrome

Likely pathogenic 6

  • c.-7-2A>G Multiple submitters fatty acyl-CoA reductase 1 deficiency
  • c.955+1G>A Single submitter
  • p.Arg480Ser Single submitter spastic paraparesis-cataracts-speech delay syndrome
  • p.Arg508Ter Single submitter spastic paraparesis-cataracts-speech delay syndrome
  • p.Glu165_Pro169delinsAsp Single submitter fatty acyl-CoA reductase 1 deficiency
  • p.Gly258Arg No assertion criteria fatty acyl-CoA reductase 1 deficiency

Conflicting classifications of pathogenicity 4

Benign 19

Benign/Likely benign 7

Likely benign 184

Uncertain significance 196