ALG8 p.Trp55fs
c.161dup · VCV3574074
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
2
ALG8-congenital disorder of glycosylation
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 2 of 13 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.055 | phastCons 0.89 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ALG8
- Protein
- p.Trp55fs
- Coding
- c.161dup
- MANE Select
- NM_024079
- Type
- Duplication
- Location
- chr11:78127370 (GRCh38)
- Gene constraint
- LOEUF 0.909 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.07
Disease context
ALG8-congenital disorder of glycosylation — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: polycystic liver disease 3 with or without kidney cysts
For ALG8-CDG (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Antenatal, Infancy, Neonatal
Similar variants
- ALG8 p.Leu104fs Pathogenic/Likely pathogenic ★★ same condition
- ALG8 p.Pro255fs Pathogenic/Likely pathogenic ★★ same condition
- ALG8 p.Ser372fs Likely pathogenic ★★ same condition
- ALG8 p.Val328fs Pathogenic/Likely pathogenic ★★ same condition
- ALG8 p.Glu452fs Pathogenic ★ same condition
- ALG8 p.Ile46fs Likely pathogenic ★ same condition
- ALG8 p.Leu241fs Likely pathogenic ★ same condition
- ALG8 p.Leu445_Lys446insHisValThrIleHisHisIleTer 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/alg8-p-trp55fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown