ELAVL1 — 15 ClinVar variants
All ClinVar germline ELAVL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
2 Benign · 13 Uncertain significance
Full ELAVL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ELAVL1 p.Arg128Gln Uncertain significance Single submitter
- ELAVL1 p.Arg131Gln Uncertain significance Single submitter
- ELAVL1 p.Asn235Ser Uncertain significance Single submitter
- ELAVL1 p.Asp12Gly Uncertain significance Single submitter
- ELAVL1 p.Ile276Ser Uncertain significance Single submitter
- ELAVL1 p.Pro173Ser Uncertain significance Single submitter
- ELAVL1 p.Val193Met Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All ELAVL1 variants
Benign 2
- c.431-6G>A Multiple submitters
- c.656+17C>T Multiple submitters
Uncertain significance 13
- p.Ala106Thr Single submitter ⚠
- p.Arg128Gln Single submitter ⚠
- p.Arg131Gln Single submitter ⚠
- p.Arg309Cys Single submitter ⚠
- p.Asn235Ser Single submitter ⚠
- p.Asp12Gly Single submitter ⚠
- p.Gly258Trp Single submitter ⚠
- p.Ile276Ser Single submitter ⚠
- p.Met300Leu Single submitter ⚠
- p.Pro173Ser Single submitter ⚠
- p.Thr180Ala Single submitter ⚠
- p.Thr80Met Single submitter
- p.Val193Met Single submitter ⚠