ALG5 — 63 ClinVar variants
All ClinVar germline ALG5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →
5 Pathogenic · 3 Likely pathogenic · 3 Benign · 8 Likely benign · 44 Uncertain significance
Full ALG5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 43
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ALG5 p.Thr249Met
Uncertain significance
Multiple submitters
polycystic kidney disease 7
- ALG5 p.Ala17Val Uncertain significance Single submitter
- ALG5 p.Ala18Val Uncertain significance Single submitter
- ALG5 p.Arg197Gln Uncertain significance Single submitter
-
ALG5 p.Arg212Cys
Uncertain significance
Single submitter
ALG5-related disorder
- ALG5 p.Arg309Gln Uncertain significance Single submitter
- ALG5 p.Arg321Gln Uncertain significance Single submitter
- ALG5 p.Asp163Asn Uncertain significance Single submitter
-
ALG5 p.Gln235His
Uncertain significance
Single submitter
polycystic kidney disease 7
-
ALG5 p.Gln235Leu
Uncertain significance
Single submitter
polycystic kidney disease 7
- ALG5 p.Gln298His Uncertain significance Single submitter
- ALG5 p.Gly156Ala Uncertain significance Single submitter
- ALG5 p.Gly195Ala Uncertain significance Single submitter
- ALG5 p.Ile192Met Uncertain significance Single submitter
- ALG5 p.Ile205Val Uncertain significance Single submitter
- ALG5 p.Ile267Val Uncertain significance Single submitter
- ALG5 p.Leu20Val Uncertain significance Single submitter
- ALG5 p.Leu8Val Uncertain significance Single submitter
- ALG5 p.Phe221Leu Uncertain significance Single submitter
- ALG5 p.Ser251Leu Uncertain significance Single submitter
- ALG5 p.Ser252Cys Uncertain significance Single submitter
- ALG5 p.Val70Ile Uncertain significance Single submitter
-
ALG5 p.Ala19Ser
Uncertain significance
No assertion criteria
ALG5-related disorder
-
ALG5 p.Arg79Gln
Uncertain significance
No assertion criteria
ALG5-related disorder
Predictors split 19
The independent predictors disagree with each other — read with care.
- ALG5 p.Ala14Thr Uncertain significance Single submitter
- ALG5 p.Ala16Ser Uncertain significance Single submitter
- ALG5 p.Arg155Gln Uncertain significance Single submitter
- ALG5 p.Arg232Gly Uncertain significance Single submitter
- ALG5 p.Arg248Trp Uncertain significance Single submitter
- ALG5 p.Arg257Gln Uncertain significance Single submitter
- ALG5 p.Arg309Leu Uncertain significance Single submitter
- ALG5 p.Arg39Gln Likely benign Single submitter
- ALG5 p.Glu41Lys Uncertain significance Single submitter
- ALG5 p.Ile306Val Uncertain significance Single submitter
- ALG5 p.Leu265Val Uncertain significance Single submitter
- ALG5 p.Leu317Pro Uncertain significance Single submitter
- ALG5 p.Leu4Phe Uncertain significance Single submitter
- ALG5 p.Lys131Ile Uncertain significance Single submitter
- ALG5 p.Lys272Thr Uncertain significance Single submitter
- ALG5 p.Met83Val Uncertain significance Single submitter
- ALG5 p.Pro187Arg Uncertain significance Single submitter
-
ALG5 p.Thr213Ile
Uncertain significance
Single submitter
polycystic kidney disease 7
- ALG5 p.Thr213Ser Uncertain significance Single submitter
All ALG5 variants
Pathogenic 5
- p.Arg208His No assertion criteria polycystic kidney disease 7
- p.Arg212His No assertion criteria polycystic kidney disease 7
- p.Arg79Trp No assertion criteria polycystic kidney disease 7
- p.Gln235fs No assertion criteria polycystic kidney disease 7
- p.Trp258Ter No assertion criteria polycystic kidney disease 7
Likely pathogenic 3
- c.239-2A>G Single submitter polycystic kidney disease 7
- p.Arg39Ter Single submitter polycystic kidney disease 7
- p.Trp224Ter Single submitter polycystic kidney disease 7
Benign 3
- c.239-28T>C Single submitter
- p.Ala18= No assertion criteria ALG5-related disorder
- p.Gly12= No assertion criteria ALG5-related disorder
Likely benign 8
- p.Arg39Gln Single submitter ⚠
- p.Arg97Gln Single submitter
- p.Lys93Glu Single submitter
- p.Val255Ile Single submitter
- p.Ala2= No assertion criteria ALG5-related disorder
- p.Leu11Val No assertion criteria ALG5-related disorder
- p.Thr249= No assertion criteria ALG5-related disorder
- p.Trp60Arg No assertion criteria ALG5-related disorder
Uncertain significance 44
- p.Thr249Met Multiple submitters polycystic kidney disease 7 ⚠
- p.Ala14Thr Single submitter ⚠
- p.Ala16Ser Single submitter ⚠
- p.Ala17Val Single submitter ⚠
- p.Ala18Val Single submitter ⚠
- p.Arg155Gln Single submitter ⚠
- p.Arg197Gln Single submitter ⚠
- p.Arg212Cys Single submitter ALG5-related disorder ⚠
- p.Arg232Gly Single submitter ⚠
- p.Arg248Trp Single submitter ⚠
- p.Arg257Gln Single submitter ⚠
- p.Arg309Gln Single submitter ⚠
- p.Arg309Leu Single submitter ⚠
- p.Arg309Ter Single submitter polycystic kidney disease 7
- p.Arg321Gln Single submitter ⚠
- p.Asp163Asn Single submitter ⚠
- p.Gln235His Single submitter polycystic kidney disease 7 ⚠
- p.Gln235Leu Single submitter polycystic kidney disease 7 ⚠
- p.Gln298His Single submitter ⚠
- p.Glu41Lys Single submitter ⚠
- p.Gly156Ala Single submitter ⚠
- p.Gly195Ala Single submitter ⚠
- p.Ile192Met Single submitter ⚠
- p.Ile205Val Single submitter ⚠
- p.Ile267Val Single submitter ⚠
- p.Ile306Val Single submitter ⚠
- p.Leu20Val Single submitter ⚠
- p.Leu240del Single submitter polycystic kidney disease 7
- p.Leu265Val Single submitter ⚠
- p.Leu317Pro Single submitter ⚠
- p.Leu4Phe Single submitter ⚠
- p.Leu8Val Single submitter ⚠
- p.Lys131Ile Single submitter ⚠
- p.Lys272Thr Single submitter ⚠
- p.Met83Val Single submitter ⚠
- p.Phe221Leu Single submitter ⚠
- p.Pro187Arg Single submitter ⚠
- p.Ser251Leu Single submitter ⚠
- p.Ser252Cys Single submitter ⚠
- p.Thr213Ile Single submitter polycystic kidney disease 7 ⚠
- p.Thr213Ser Single submitter ⚠
- p.Val70Ile Single submitter ⚠
- p.Ala19Ser No assertion criteria ALG5-related disorder ⚠
- p.Arg79Gln No assertion criteria ALG5-related disorder ⚠