Sugi Variant

Sugi Variant/FARSB

FARSB — 222 ClinVar variants

All ClinVar germline FARSB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 110 flagged for review →

9 Pathogenic · 2 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 2 Conflicting · 12 Benign · 4 Benign/Likely benign · 67 Likely benign · 123 Uncertain significance

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

⚑ Evidence disagreements 110

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 2

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

Predictors lean, ClinVar uncertain 77

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

Predictors split 30

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

All FARSB variants

Pathogenic 9

  • p.Arg154Gly Single submitter Rajab interstitial lung disease with brain calcifications 1
  • p.Arg401Gln Single submitter Cerebral calcification
  • p.Cys76Arg Single submitter Cerebral calcification
  • p.His496fs Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
  • p.Leu167fs Single submitter
  • p.Leu470fs Single submitter Rajab interstitial lung disease with brain calcifications 1
  • p.Lys262Glu Single submitter Cerebral calcification
  • p.Thr461Pro Single submitter Cerebral calcification
  • p.Phe252Ser No assertion criteria Rajab interstitial lung disease with brain calcifications

Pathogenic/Likely pathogenic 2

  • c.848+1G>A Multiple submitters Rajab interstitial lung disease with brain calcifications 1
  • p.Glu285Lys Multiple submitters Rajab interstitial lung disease with brain calcifications 1

Likely pathogenic 3

  • c.58+2T>C Single submitter
  • p.Arg305Gln Single submitter Rajab interstitial lung disease with brain calcifications ⚠
  • p.Gln13fs Single submitter Rajab interstitial lung disease with brain calcifications 1

Conflicting classifications of pathogenicity 2

Benign 12

Benign/Likely benign 4

Likely benign 67

Uncertain significance 123