COG7 p.Arg444=
c.1330C>A · VCV4697409
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
COG7-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 · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 5 | GERP 0.72, phastCons 1 |
| Overall | ||
| CADD | 17.79 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- COG7
- Protein
- p.Arg444=
- Coding
- c.1330C>A
- MANE Select
- NM_153603
- Type
- single nucleotide variant
- Location
- chr16:23413527 (GRCh38)
- Gene constraint
- LOEUF 0.651 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 82.77
Disease context
COG7-congenital disorder of glycosylation — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor COG7-CDG (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Infancy, Neonatal
Similar variants
- COG7 p.Arg444Ter Pathogenic/Likely pathogenic ★★ same residue
- COG7 c.318+1G>A Likely pathogenic ★★ same condition
- COG7 p.Ala606Asp Pathogenic/Likely pathogenic ★★ ⚠ same condition
- COG7 c.1475+4G>A Uncertain significance ★★ same condition
- COG7 p.Ala194Val Uncertain significance ★★ ⚠ same condition
- COG7 p.Ala222Thr Uncertain significance ★★ ⚠ same condition
- COG7 p.Ala29Val Uncertain significance ★★ ⚠ same condition
- COG7 p.Ala325Thr 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/cog7-p-arg444 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown