Sugi Variant

Sugi Variant/ELOVL5

ELOVL5 — 154 ClinVar variants

All ClinVar germline ELOVL5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →

2 Pathogenic · 3 Conflicting · 28 Benign · 4 Benign/Likely benign · 29 Likely benign · 88 Uncertain significance

Full ELOVL5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 74

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 lean, ClinVar uncertain 42

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

Predictors split 31

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

All ELOVL5 variants

Pathogenic 2

  • p.Gly230Val No assertion criteria spinocerebellar ataxia type 38 ⚠
  • p.Leu72Val No assertion criteria spinocerebellar ataxia type 38 ⚠

Conflicting classifications of pathogenicity 3

Benign 28

Benign/Likely benign 4

Likely benign 29

Uncertain significance 88