ELAVL3 — 30 ClinVar variants
All ClinVar germline ELAVL3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
3 Benign · 2 Likely benign · 25 Uncertain significance
Full ELAVL3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ELAVL3 p.Ala227Thr Uncertain significance Single submitter
- ELAVL3 p.Ala271Val Uncertain significance Single submitter
- ELAVL3 p.Ala279Val Uncertain significance Single submitter
- ELAVL3 p.Ala280Val Uncertain significance Single submitter
- ELAVL3 p.Arg317Cys Uncertain significance Single submitter
- ELAVL3 p.Asp265Asn Uncertain significance Single submitter
- ELAVL3 p.Cys285Tyr Uncertain significance Single submitter
- ELAVL3 p.Gly14Arg Uncertain significance Single submitter
- ELAVL3 p.Gly16Cys Uncertain significance Single submitter
- ELAVL3 p.Ile62Val Uncertain significance Single submitter
- ELAVL3 p.Ile65Val Uncertain significance Single submitter
- ELAVL3 p.Met245Val Uncertain significance Single submitter
- ELAVL3 p.Pro17Leu Uncertain significance Single submitter
- ELAVL3 p.Ser165Pro Uncertain significance Single submitter
- ELAVL3 p.Val273Met Uncertain significance Single submitter
- ELAVL3 p.Val43Ile Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- ELAVL3 p.Asn322Thr Uncertain significance Single submitter
- ELAVL3 p.Asn91Asp Uncertain significance Single submitter
- ELAVL3 p.Asp296Asn Uncertain significance Single submitter
- ELAVL3 p.Gly14Trp Uncertain significance Single submitter
- ELAVL3 p.Met136Val Uncertain significance Single submitter
- ELAVL3 p.Phe259Leu Uncertain significance Single submitter
- ELAVL3 p.Thr210Met Uncertain significance Single submitter
All ELAVL3 variants
Likely benign 2
- p.Ala257= Single submitter
- p.Gly14Ala Single submitter
Uncertain significance 25
- p.Ala227Thr Single submitter ⚠
- p.Ala271Val Single submitter ⚠
- p.Ala279Val Single submitter ⚠
- p.Ala280Val Single submitter ⚠
- p.Arg236His Single submitter
- p.Arg317Cys Single submitter ⚠
- p.Asn322Thr Single submitter ⚠
- p.Asn91Asp Single submitter ⚠
- p.Asp265Asn Single submitter ⚠
- p.Asp296Asn Single submitter ⚠
- p.Cys285Tyr Single submitter ⚠
- p.Gly14Arg Single submitter ⚠
- p.Gly14Trp Single submitter ⚠
- p.Gly16Cys Single submitter ⚠
- p.Ile62Val Single submitter ⚠
- p.Ile65Val Single submitter ⚠
- p.Met136Val Single submitter ⚠
- p.Met245Val Single submitter ⚠
- p.Phe259Leu Single submitter ⚠
- p.Pro17Leu Single submitter ⚠
- p.Ser165Pro Single submitter ⚠
- p.Thr210Met Single submitter ⚠
- p.Tyr226fs Single submitter
- p.Val273Met Single submitter ⚠
- p.Val43Ile Single submitter ⚠