ALG6 c.257+14del
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
ALG6-congenital disorder of glycosylation 1C
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +14 | near-intronic (+14 nt from the splice site) |
|---|---|---|
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.48 | GERP -1.6 |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- ALG6
- Coding
- c.257+14del
- MANE Select
- NM_013339
- dbSNP
- rs2523723668
- Type
- Deletion
- Location
- chr1:63402355 (GRCh38)
- Gene constraint
- LOEUF 0.892 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 93.08
Disease context
ALG6-congenital disorder of glycosylation 1C — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor ALG6-CDG (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Infancy, Neonatal
Similar variants
- ALG6 c.82_82+8del Likely pathogenic ★★ same condition
- ALG6 p.Asn283fs Pathogenic/Likely pathogenic ★★ same condition
- ALG6 p.Gln417fs Pathogenic/Likely pathogenic ★★ same condition
- ALG6 p.Leu416fs Pathogenic/Likely pathogenic ★★ same condition
- ALG6 p.Met34fs Pathogenic/Likely pathogenic ★★ same condition
- ALG6 p.Phe228fs Pathogenic/Likely pathogenic ★★ same condition
- ALG6 p.Phe336fs Pathogenic/Likely pathogenic ★★ same condition
- ALG6 p.Pro379fs Pathogenic/Likely pathogenic ★★ 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/alg6-c-257-plus-14del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown