EIF3L — 37 ClinVar variants
All ClinVar germline EIF3L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
1 Benign · 1 Likely benign · 35 Uncertain significance
Full EIF3L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EIF3L p.Ala13Ser Uncertain significance Single submitter
- EIF3L p.Ala508Ser Uncertain significance Single submitter
- EIF3L p.Arg242Gln Uncertain significance Single submitter
- EIF3L p.Arg262Gln Uncertain significance Single submitter
- EIF3L p.Arg327Leu Uncertain significance Single submitter
- EIF3L p.Arg328Cys Uncertain significance Single submitter
- EIF3L p.Arg391Pro Uncertain significance Single submitter
- EIF3L p.Arg555Gln Uncertain significance Single submitter
- EIF3L p.Asn124Ser Uncertain significance Single submitter
- EIF3L p.Asn434Ser Uncertain significance Single submitter
- EIF3L p.Asp286Gly Uncertain significance Single submitter
- EIF3L p.Ile382Val Uncertain significance Single submitter
- EIF3L p.Leu340Ile Uncertain significance Single submitter
- EIF3L p.Leu388Phe Uncertain significance Single submitter
- EIF3L p.Pro564Ala Uncertain significance Single submitter
- EIF3L p.Pro564Arg Uncertain significance Single submitter
- EIF3L p.Thr353Ser Uncertain significance Single submitter
- EIF3L p.Thr354Met Uncertain significance Single submitter
- EIF3L p.Tyr247Phe Uncertain significance Single submitter
- EIF3L p.Val293Gly Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- EIF3L p.Ala536Thr Uncertain significance Single submitter
- EIF3L p.Arg381His Uncertain significance Single submitter
- EIF3L p.Arg38His Uncertain significance Single submitter
- EIF3L p.Asp510Gly Uncertain significance Single submitter
- EIF3L p.Gly147Arg Uncertain significance Single submitter
- EIF3L p.Gly505Ser Uncertain significance Single submitter
- EIF3L p.Ile212Thr Uncertain significance Single submitter
- EIF3L p.Leu66Phe Uncertain significance Single submitter
- EIF3L p.Lys494Arg Uncertain significance Single submitter
- EIF3L p.Phe214Leu Uncertain significance Single submitter
- EIF3L p.Pro179Ser Uncertain significance Single submitter
- EIF3L p.Thr44Ile Uncertain significance Single submitter
- EIF3L p.Tyr14Cys Uncertain significance Single submitter
- EIF3L p.Tyr166Cys Uncertain significance Single submitter
All EIF3L variants
Benign 1
- p.Ala322= Multiple submitters
Likely benign 1
- p.Ser98= Single submitter
Uncertain significance 35
- p.Ala13Ser Single submitter ⚠
- p.Ala508Ser Single submitter ⚠
- p.Ala536Thr Single submitter ⚠
- p.Arg242Gln Single submitter ⚠
- p.Arg262Gln Single submitter ⚠
- p.Arg327Leu Single submitter ⚠
- p.Arg328Cys Single submitter ⚠
- p.Arg381His Single submitter ⚠
- p.Arg38His Single submitter ⚠
- p.Arg391Pro Single submitter ⚠
- p.Arg487Gln Single submitter
- p.Arg555Gln Single submitter ⚠
- p.Asn124Ser Single submitter ⚠
- p.Asn434Ser Single submitter ⚠
- p.Asp286Gly Single submitter ⚠
- p.Asp510Gly Single submitter ⚠
- p.Gly147Arg Single submitter ⚠
- p.Gly505Ser Single submitter ⚠
- p.Ile212Thr Single submitter ⚠
- p.Ile382Val Single submitter ⚠
- p.Leu340Ile Single submitter ⚠
- p.Leu388Phe Single submitter ⚠
- p.Leu66Phe Single submitter ⚠
- p.Lys494Arg Single submitter ⚠
- p.Phe214Leu Single submitter ⚠
- p.Pro179Ser Single submitter ⚠
- p.Pro564Ala Single submitter ⚠
- p.Pro564Arg Single submitter ⚠
- p.Thr353Ser Single submitter ⚠
- p.Thr354Met Single submitter ⚠
- p.Thr44Ile Single submitter ⚠
- p.Tyr14Cys Single submitter ⚠
- p.Tyr166Cys Single submitter ⚠
- p.Tyr247Phe Single submitter ⚠
- p.Val293Gly Single submitter ⚠