ALG2 p.Ser381Thr
c.1140_1141inv · VCV2082969
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
2
ALG2-congenital disorder of glycosylation
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 6.1 | GERP 2.8, phastCons 1 |
| Regional constraint | o/e 1.09 | unconstrained · MANE · 3,957 bp · p 0.038 · regional, not allelic |
Variant & gene context
- Gene
- ALG2
- Protein
- p.Ser381Thr
- Coding
- c.1140_1141inv
- MANE Select
- NM_033087
- Type
- Inversion
- Location
- chr9:99218044 (GRCh38)
- Gene constraint
- LOEUF 1.408 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 91.03
Disease context
ALG2-congenital disorder of glycosylation — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: congenital myasthenic syndrome 14
For ALG2-CDG (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Infancy, Neonatal
Similar variants
- ALG2 p.Gly347fs Pathogenic/Likely pathogenic ★★ same condition
- ALG2 p.Gly72_Leu75delinsSerProArg Pathogenic/Likely pathogenic ★★ same condition
- ALG2 p.Ala29Pro Uncertain significance ★★ ⚠ same condition
- ALG2 p.Ala36Val Uncertain significance ★★ ⚠ same condition
- ALG2 p.Ala71Gly Uncertain significance ★★ ⚠ same condition
- ALG2 p.Ala71Val Uncertain significance ★★ ⚠ same condition
- ALG2 p.Arg129Gln Uncertain significance ★★ ⚠ same condition
- ALG2 p.Arg130Gln Uncertain significance ★★ ⚠ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/alg2-p-ser381thr (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown