ALG10 — 78 ClinVar variants

All ClinVar germline ALG10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →

2 Likely pathogenic · 4 Benign · 5 Likely benign · 67 Uncertain significance

Full ALG10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 68

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

ALG10 p.Met61Val Likely pathogenic Single submitter
developmental and epileptic encephalopathy, 36

Predictors lean, ClinVar uncertain 35

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 32

The independent predictors disagree with each other — read with care.

All ALG10 variants

Likely pathogenic 2

c.369+1G>T Single submitter ALG9-congenital disorder of glycosylation
p.Met61Val Single submitter developmental and epileptic encephalopathy, 36 ⚠

Benign 4

p.Ser243= Multiple submitters
p.Thr134= Multiple submitters
p.Val269Ile Multiple submitters
p.Val447Ile No assertion criteria long QT syndrome 2

Likely benign 5

p.Asn464Asp Single submitter
p.Ile454Leu Single submitter
p.Ile73Val Single submitter
p.Leu456= No assertion criteria ALG10-related disorder
p.Val118= No assertion criteria ALG10-related disorder

Uncertain significance 67

p.Ala11Asp Single submitter ⚠
p.Ala11Thr Single submitter ⚠
p.Ala125Thr Single submitter ⚠
p.Ala12Asp Single submitter ⚠
p.Ala228Pro Single submitter ⚠
p.Ala284Gly Single submitter ⚠
p.Ala2Val Single submitter ⚠
p.Ala30Val Single submitter ⚠
p.Ala343Gly Single submitter ⚠
p.Arg186Gln Single submitter ⚠
p.Arg279Gln Single submitter ⚠
p.Arg29Trp Single submitter ⚠
p.Arg32Gly Single submitter ⚠
p.Arg416Cys Single submitter ⚠
p.Arg416His Single submitter ⚠
p.Arg97Lys Single submitter ⚠
p.Asn189Ser Single submitter ⚠
p.Asn457Ser Single submitter ⚠
p.Asn464Lys Single submitter ⚠
p.Cys181Trp Single submitter ⚠
p.Cys91Tyr Single submitter ⚠
p.Glu367Asp Single submitter ⚠
p.Gly6Ser Single submitter ⚠
p.Gly84Ala Single submitter ⚠
p.His282Pro Single submitter ⚠
p.His344Arg Single submitter ⚠
p.Ile378Met Single submitter ⚠
p.Ile82Val Single submitter ⚠
p.Ile93Asn Single submitter ⚠
p.Ile93Leu Single submitter ⚠
p.Ile93Thr Single submitter ⚠
p.Leu111Gln Single submitter ⚠
p.Leu149Val Single submitter ⚠
p.Leu237His Single submitter ⚠
p.Leu247Phe Single submitter ⚠
p.Leu299Val Single submitter ⚠
p.Leu348Ile Single submitter ⚠
p.Leu373Ser Single submitter ⚠
p.Lys204Arg Single submitter ⚠
p.Lys77Arg Single submitter ⚠
p.Met166Val Single submitter ⚠
p.Met242Leu Single submitter ⚠
p.Met36Val Single submitter ⚠
p.Met398Val Single submitter ⚠
p.Phe158Val Single submitter ⚠
p.Phe17Leu Single submitter ⚠
p.Phe326Ser Single submitter ⚠
p.Phe356Ser Single submitter ⚠
p.Pro430Thr Single submitter ⚠
p.Pro463Leu Single submitter ⚠
p.Ser104Asn Single submitter ⚠
p.Ser310Arg Single submitter ⚠
p.Ser442Asn Single submitter ⚠
p.Thr134Ile Single submitter ⚠
p.Thr160Ala Single submitter ⚠
p.Thr206Met Single submitter ⚠
p.Thr341Ser Single submitter ⚠
p.Thr405Ser Single submitter ⚠
p.Thr451Ser Single submitter ⚠
p.Trp359Ser Single submitter ⚠
p.Tyr112Cys Single submitter ⚠
p.Tyr35Cys Single submitter ⚠
p.Tyr377Cys Single submitter ⚠
p.Val194Leu Single submitter ⚠
p.Val319Leu Single submitter ⚠
p.Val374Phe Single submitter ⚠
p.Val90Phe Single submitter ⚠