LCA5L — 89 ClinVar variants
All ClinVar germline LCA5L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →
4 Likely benign · 85 Uncertain significance
Full LCA5L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 82
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 74
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- LCA5L p.Ala159Pro Uncertain significance Single submitter
- LCA5L p.Ala255Gly Uncertain significance Single submitter
- LCA5L p.Ala306Thr Uncertain significance Single submitter
- LCA5L p.Ala392Val Uncertain significance Single submitter
- LCA5L p.Ala544Thr Uncertain significance Single submitter
- LCA5L p.Arg226Trp Uncertain significance Single submitter
- LCA5L p.Arg301Gln Uncertain significance Single submitter
- LCA5L p.Arg340Gln Uncertain significance Single submitter
- LCA5L p.Arg40Trp Uncertain significance Single submitter
- LCA5L p.Arg490Ser Uncertain significance Single submitter
- LCA5L p.Asn209His Uncertain significance Single submitter
- LCA5L p.Asn22Lys Uncertain significance Single submitter
- LCA5L p.Asn545Ser Uncertain significance Single submitter
- LCA5L p.Asp37Asn Uncertain significance Single submitter
- LCA5L p.Asp66Glu Uncertain significance Single submitter
- LCA5L p.Asp74His Uncertain significance Single submitter
- LCA5L p.Gln212Pro Uncertain significance Single submitter
- LCA5L p.Gln307Glu Uncertain significance Single submitter
- LCA5L p.Gln375Arg Uncertain significance Single submitter
- LCA5L p.Gln613Pro Uncertain significance Single submitter
- LCA5L p.Glu115Gly Uncertain significance Single submitter
- LCA5L p.Glu13Ala Uncertain significance Single submitter
- LCA5L p.Glu190Val Uncertain significance Single submitter
- LCA5L p.Glu258Asp Uncertain significance Single submitter
- LCA5L p.Glu332Gln Uncertain significance Single submitter
- LCA5L p.Glu420Lys Uncertain significance Single submitter
- LCA5L p.Glu92Gln Uncertain significance Single submitter
- LCA5L p.Gly34Asp Uncertain significance Single submitter
- LCA5L p.Gly446Ala Uncertain significance Single submitter
- LCA5L p.Gly501Ala Uncertain significance Single submitter
- LCA5L p.Gly501Val Uncertain significance Single submitter
- LCA5L p.Gly573Arg Uncertain significance Single submitter
- LCA5L p.Gly646Arg Uncertain significance Single submitter
- LCA5L p.His182Arg Uncertain significance Single submitter
- LCA5L p.His262Asp Uncertain significance Single submitter
- LCA5L p.His319Gln Uncertain significance Single submitter
- LCA5L p.His319Tyr Uncertain significance Single submitter
- LCA5L p.His398Pro Uncertain significance Single submitter
- LCA5L p.His643Arg Uncertain significance Single submitter
- LCA5L p.Ile103Thr Uncertain significance Single submitter
- LCA5L p.Ile473Thr Uncertain significance Single submitter
- LCA5L p.Ile476Val Uncertain significance Single submitter
- LCA5L p.Leu248Pro Uncertain significance Single submitter
- LCA5L p.Leu304Ser Uncertain significance Single submitter
- LCA5L p.Leu342Phe Uncertain significance Single submitter
- LCA5L p.Lys116Glu Uncertain significance Single submitter
- LCA5L p.Lys379Thr Uncertain significance Single submitter
- LCA5L p.Lys401Arg Uncertain significance Single submitter
- LCA5L p.Lys557Arg Uncertain significance Single submitter
- LCA5L p.Lys96Thr Uncertain significance Single submitter
- LCA5L p.Lys97Arg Uncertain significance Single submitter
- LCA5L p.Met131Ile Uncertain significance Single submitter
- LCA5L p.Met131Val Uncertain significance Single submitter
- LCA5L p.Met200Thr Uncertain significance Single submitter
- LCA5L p.Phe15Leu Uncertain significance Single submitter
- LCA5L p.Phe369Leu Uncertain significance Single submitter
- LCA5L p.Pro352Arg Uncertain significance Single submitter
- LCA5L p.Pro384Arg Uncertain significance Single submitter
- LCA5L p.Ser371Thr Uncertain significance Single submitter
- LCA5L p.Ser482Arg Uncertain significance Single submitter
- LCA5L p.Ser48Ile Uncertain significance Single submitter
- LCA5L p.Ser54Ala Uncertain significance Single submitter
- LCA5L p.Ser596Arg Uncertain significance Single submitter
- LCA5L p.Ser628Gly Uncertain significance Single submitter
- LCA5L p.Ser659Leu Uncertain significance Single submitter
- LCA5L p.Thr119Ile Uncertain significance Single submitter
- LCA5L p.Thr269Ile Uncertain significance Single submitter
- LCA5L p.Thr514Met Uncertain significance Single submitter
- LCA5L p.Thr662Ile Uncertain significance Single submitter
- LCA5L p.Tyr426His Uncertain significance Single submitter
- LCA5L p.Tyr98Cys Uncertain significance Single submitter
- LCA5L p.Val18Met Uncertain significance Single submitter
- LCA5L p.Val317Ile Uncertain significance Single submitter
- LCA5L p.Val608Asp Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- LCA5L p.Ala529Pro Uncertain significance Single submitter
- LCA5L p.Arg142Gln Uncertain significance Single submitter
- LCA5L p.Arg211Thr Uncertain significance Single submitter
- LCA5L p.Arg329Gly Uncertain significance Single submitter
- LCA5L p.Met599Thr Uncertain significance Single submitter
- LCA5L p.Phe71Leu Uncertain significance Single submitter
- LCA5L p.Ser249Tyr Uncertain significance Single submitter
- LCA5L p.Val360Gly Uncertain significance Single submitter
All LCA5L variants
Likely benign 4
- p.Ala392Thr Single submitter
- p.Gly621= Single submitter
- p.Pro512= Single submitter
- p.Tyr574= Single submitter
Uncertain significance 85
- p.Ala159Pro Single submitter ⚠
- p.Ala255Gly Single submitter ⚠
- p.Ala306Thr Single submitter ⚠
- p.Ala392Val Single submitter ⚠
- p.Ala529Pro Single submitter ⚠
- p.Ala544Thr Single submitter ⚠
- p.Arg142Gln Single submitter ⚠
- p.Arg211Thr Single submitter ⚠
- p.Arg226Trp Single submitter ⚠
- p.Arg301Gln Single submitter ⚠
- p.Arg329Gly Single submitter ⚠
- p.Arg340Gln Single submitter ⚠
- p.Arg40Trp Single submitter ⚠
- p.Arg490Ser Single submitter ⚠
- p.Asn209His Single submitter ⚠
- p.Asn22Lys Single submitter ⚠
- p.Asn545Ser Single submitter ⚠
- p.Asp37Asn Single submitter ⚠
- p.Asp66Glu Single submitter ⚠
- p.Asp74His Single submitter ⚠
- p.Gln212Pro Single submitter ⚠
- p.Gln295His Single submitter
- p.Gln307Glu Single submitter ⚠
- p.Gln375Arg Single submitter ⚠
- p.Gln613Pro Single submitter ⚠
- p.Glu115Gly Single submitter ⚠
- p.Glu13Ala Single submitter ⚠
- p.Glu190Val Single submitter ⚠
- p.Glu258Asp Single submitter ⚠
- p.Glu332Gln Single submitter ⚠
- p.Glu420Lys Single submitter ⚠
- p.Glu92Gln Single submitter ⚠
- p.Gly34Asp Single submitter ⚠
- p.Gly446Ala Single submitter ⚠
- p.Gly501Ala Single submitter ⚠
- p.Gly501Val Single submitter ⚠
- p.Gly573Arg Single submitter ⚠
- p.Gly646Arg Single submitter ⚠
- p.His182Arg Single submitter ⚠
- p.His262Asp Single submitter ⚠
- p.His319Gln Single submitter ⚠
- p.His319Tyr Single submitter ⚠
- p.His398Pro Single submitter ⚠
- p.His643Arg Single submitter ⚠
- p.Ile103Thr Single submitter ⚠
- p.Ile473Thr Single submitter ⚠
- p.Ile476Val Single submitter ⚠
- p.Leu248Pro Single submitter ⚠
- p.Leu304Ser Single submitter ⚠
- p.Leu342Phe Single submitter ⚠
- p.Lys116Glu Single submitter ⚠
- p.Lys283Glu Single submitter
- p.Lys325Met Single submitter
- p.Lys379Thr Single submitter ⚠
- p.Lys401Arg Single submitter ⚠
- p.Lys557Arg Single submitter ⚠
- p.Lys96Thr Single submitter ⚠
- p.Lys97Arg Single submitter ⚠
- p.Met131Ile Single submitter ⚠
- p.Met131Val Single submitter ⚠
- p.Met200Thr Single submitter ⚠
- p.Met599Thr Single submitter ⚠
- p.Phe15Leu Single submitter ⚠
- p.Phe369Leu Single submitter ⚠
- p.Phe71Leu Single submitter ⚠
- p.Pro352Arg Single submitter ⚠
- p.Pro384Arg Single submitter ⚠
- p.Ser249Tyr Single submitter ⚠
- p.Ser371Thr Single submitter ⚠
- p.Ser482Arg Single submitter ⚠
- p.Ser48Ile Single submitter ⚠
- p.Ser54Ala Single submitter ⚠
- p.Ser596Arg Single submitter ⚠
- p.Ser628Gly Single submitter ⚠
- p.Ser659Leu Single submitter ⚠
- p.Thr119Ile Single submitter ⚠
- p.Thr269Ile Single submitter ⚠
- p.Thr514Met Single submitter ⚠
- p.Thr662Ile Single submitter ⚠
- p.Tyr426His Single submitter ⚠
- p.Tyr98Cys Single submitter ⚠
- p.Val18Met Single submitter ⚠
- p.Val317Ile Single submitter ⚠
- p.Val360Gly Single submitter ⚠
- p.Val608Asp Single submitter ⚠