Sugi Variant

Sugi Variant/ELOVL4

ELOVL4 — 344 ClinVar variants

All ClinVar germline ELOVL4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 141 flagged for review →

14 Pathogenic · 3 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 10 Conflicting · 34 Benign · 4 Benign/Likely benign · 93 Likely benign · 178 Uncertain significance

Full ELOVL4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 141

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 3

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

Predictors lean, ClinVar uncertain 72

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

Predictors split 65

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

All ELOVL4 variants

Pathogenic 14

Pathogenic/Likely pathogenic 3

  • p.Arg216Ter Multiple submitters congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
  • p.Ile171Thr Multiple submitters spinocerebellar ataxia type 34 ⚠
  • p.Tyr270Ter Multiple submitters Stargardt disease 3

Likely pathogenic 8

Conflicting classifications of pathogenicity 10

Benign 34

Benign/Likely benign 4

  • c.101-4A>G Multiple submitters
  • p.Glu272Gln Multiple submitters congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
  • p.Ile267Thr Multiple submitters Stargardt disease 3 ⚠
  • p.Thr233= Multiple submitters Stargardt disease 3

Likely benign 93

Uncertain significance 178