ELOVL1 — 75 ClinVar variants
All ClinVar germline ELOVL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
1 Pathogenic · 1 Conflicting · 5 Benign · 31 Likely benign · 37 Uncertain significance
Full ELOVL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 lean, ClinVar uncertain 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ELOVL1 p.Ser68Ala Uncertain significance Multiple submitters
- ELOVL1 p.Trp153Ser Uncertain significance Multiple submitters
- ELOVL1 p.Val174Met Uncertain significance Multiple submitters
- ELOVL1 p.Arg109Gln Uncertain significance Single submitter
- ELOVL1 p.Arg109Trp Uncertain significance Single submitter
- ELOVL1 p.Arg18Trp Uncertain significance Single submitter
- ELOVL1 p.Arg263His Uncertain significance Single submitter
- ELOVL1 p.Arg53Trp Uncertain significance Single submitter
- ELOVL1 p.Arg92His Uncertain significance Single submitter
- ELOVL1 p.Asn52Ser Uncertain significance Single submitter
- ELOVL1 p.Ile158Met Uncertain significance Single submitter
- ELOVL1 p.Ile242Val Uncertain significance Single submitter
- ELOVL1 p.Leu29Val Uncertain significance Single submitter
- ELOVL1 p.Met222Ile Uncertain significance Single submitter
- ELOVL1 p.Met222Val Uncertain significance Single submitter
- ELOVL1 p.Met82Thr Uncertain significance Single submitter
- ELOVL1 p.Met82Val Uncertain significance Single submitter
- ELOVL1 p.Ser101Asn Uncertain significance Single submitter
- ELOVL1 p.Ser83Leu Uncertain significance Single submitter
- ELOVL1 p.Thr88Ser Uncertain significance Single submitter
- ELOVL1 p.Trp112Ser Uncertain significance Single submitter
-
ELOVL1 p.Trp153Cys
Uncertain significance
Single submitter
ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
- ELOVL1 p.Trp153Leu Uncertain significance Single submitter
- ELOVL1 p.Tyr239Cys Uncertain significance Single submitter
- ELOVL1 p.Val231Phe Uncertain significance Single submitter
- ELOVL1 p.Val276Ile Uncertain significance Single submitter
- ELOVL1 p.Val39Met Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- ELOVL1 p.Arg48His Uncertain significance Multiple submitters
- ELOVL1 p.Arg263Cys Likely benign Single submitter
- ELOVL1 p.Gly155Ala Uncertain significance Single submitter
- ELOVL1 p.Phe166Leu Uncertain significance Single submitter
- ELOVL1 p.Phe56Leu Uncertain significance Single submitter
-
ELOVL1 p.Ser165Phe
Conflicting
Single submitter
ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
All ELOVL1 variants
Pathogenic 1
- c.376-2A>G No assertion criteria ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
Conflicting classifications of pathogenicity 1
- p.Ser165Phe Single submitter ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features ⚠
Benign 5
Likely benign 31
- c.375+17G>A Multiple submitters
- p.Ser117= Multiple submitters
- c.238-6T>A Single submitter
- c.375+12T>C Single submitter
- c.376-16C>A Single submitter
- c.376-5C>G Single submitter
- c.46+19G>T Single submitter
- c.46+8G>A Single submitter
- c.481+8_481+10del Single submitter
- c.482-20_482-17del Single submitter
- c.482-8A>T Single submitter
- c.618+12G>A Single submitter
- p.Arg263Cys Single submitter ⚠
- p.Gly161= Single submitter
- p.Gly164= Single submitter
- p.His14= Single submitter
- p.His253= Single submitter
- p.Ile216= Single submitter
- p.Ile233Val Single submitter
- p.Ile34= Single submitter
- p.Leu195= Single submitter
- p.Leu24= Single submitter
- p.Leu81= Single submitter
- p.Lys133= Single submitter
- p.Lys259= Single submitter
- p.Pro55= Single submitter
- p.Ser173= Single submitter
- p.Ser223= Single submitter
- p.Ser83= Single submitter
- p.Thr256= Single submitter
- p.Val174= Single submitter
Uncertain significance 37
- p.Arg48Cys Multiple submitters
- p.Arg48His Multiple submitters ⚠
- p.Ser68Ala Multiple submitters ⚠
- p.Trp153Ser Multiple submitters ⚠
- p.Val174Met Multiple submitters ⚠
- c.237+6C>T Single submitter
- c.46+5G>A Single submitter
- c.47-2A>C Single submitter ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
- p.Arg109Gln Single submitter ⚠
- p.Arg109Trp Single submitter ⚠
- p.Arg18Trp Single submitter ⚠
- p.Arg263His Single submitter ⚠
- p.Arg53Trp Single submitter ⚠
- p.Arg92His Single submitter ⚠
- p.Asn52Ser Single submitter ⚠
- p.Gly155Ala Single submitter ⚠
- p.Ile158Met Single submitter ⚠
- p.Ile242Val Single submitter ⚠
- p.Leu29Val Single submitter ⚠
- p.Met222Ile Single submitter ⚠
- p.Met222Val Single submitter ⚠
- p.Met82Thr Single submitter ⚠
- p.Met82Val Single submitter ⚠
- p.Phe166Leu Single submitter ⚠
- p.Phe56Leu Single submitter ⚠
- p.Ser101Asn Single submitter ⚠
- p.Ser83Leu Single submitter ⚠
- p.Thr32Asn Single submitter
- p.Thr88Ser Single submitter ⚠
- p.Trp112Ser Single submitter ⚠
- p.Trp153Cys Single submitter ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features ⚠
- p.Trp153Leu Single submitter ⚠
- p.Tyr239Cys Single submitter ⚠
- p.Val231Phe Single submitter ⚠
- p.Val276Ile Single submitter ⚠
- p.Val39Met Single submitter ⚠
- p.Trp153Ter No assertion criteria ELOVL1-related disorder