Sugi Variant

Sugi Variant/FLAD1

FLAD1 — 363 ClinVar variants

All ClinVar germline FLAD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 161 flagged for review →

17 Pathogenic · 2 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 12 Conflicting · 13 Benign · 3 Benign/Likely benign · 139 Likely benign · 165 Uncertain significance

Full FLAD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 161

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 5

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

Predictors lean, ClinVar uncertain 122

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

Predictors split 33

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

All FLAD1 variants

Pathogenic 17

  • p.Arg148Ter Multiple submitters myopathy with abnormal lipid metabolism
  • p.Arg249Ter Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Phe134fs Multiple submitters myopathy with abnormal lipid metabolism
  • p.Ala176fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Arg109fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asn131fs Single submitter
  • p.Asp492fs Single submitter
  • p.Gln447Ter Single submitter
  • p.Gln459Ter Single submitter
  • p.Glu330fs Single submitter
  • p.Glu364Ter Single submitter
  • p.Leu271fs Single submitter
  • p.Phe279fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ser167fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ser495del Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Val191fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Glu266fs No assertion criteria myopathy with abnormal lipid metabolism

Pathogenic/Likely pathogenic 2

  • p.Arg530Cys Multiple submitters FLAD1-related disorder ⚠
  • p.Cys136Ter Multiple submitters myopathy with abnormal lipid metabolism

Likely pathogenic 12

Conflicting classifications of pathogenicity 12

Benign 13

Benign/Likely benign 3

  • p.Arg262Gln Multiple submitters Inborn genetic diseases
  • p.Phe243= Multiple submitters myopathy with abnormal lipid metabolism
  • p.Ser395Asn Multiple submitters

Likely benign 139

Uncertain significance 165