Is ALG9 c.*2230A>C pathogenic?

ALG9 c.2230A>C is classified Uncertain significance in ALG9 (ClinVar, Single submitter, 1 submitter; last evaluated 2018-01-13). Rare (popmax 0.837%, afr); Associated with ALG9-congenital disorder of glycosylation.

What condition is associated with ALG9 c.*2230A>C?

ALG9 c.*2230A>C is associated with ALG9-congenital disorder of glycosylation (ClinVar).

How common is ALG9 c.*2230A>C in the general population?

ALG9 c.*2230A>C is rare (popmax 0.837%, afr) (gnomAD).

How is ALG9-CDG inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

ALG9 c.*2230A>C

rs116530919 · VCV302394

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.837%, afr)

Conditions

ALG9-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 -1	GERP -4.3
Non-coding constraint	Z 1.99	1 kb window · o/e 0.86 · regional · uncalibrated
Overall
CADD	0.172	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.837% African / African-American · 348/41,566 alleles

Filtering AF 0.765% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.736%

Overall 0.238% 363/152,318 alleles · rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.837%	119
Admixed American	0.0784%	1,275
Remaining individualsnot grpmax-eligible	0.0472%	2,118
European (non-Finnish)	0.00294%	34,018

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: ALG9
Coding: c.*2230A>C
MANE Select: NM_024740
dbSNP: rs116530919
Type: single nucleotide variant
Location: chr11:111784167 (GRCh38)
Gene constraint: LOEUF 0.853 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 88.35 · 2 PDB

Full ALG9 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

ALG9-congenital disorder of glycosylation — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For ALG9-CDG (Orphanet):

Inheritance: Autosomal recessive
Onset: Antenatal, Infancy, Neonatal

Similar variants

ALG9 c.566-1G>A Pathogenic/Likely pathogenic ★★ same condition
ALG9 c.896-2A>G Likely pathogenic ★★ same condition
ALG9 p.Arg143Ter Pathogenic/Likely pathogenic ★★ same condition
ALG9 p.Trp248Ter Pathogenic/Likely pathogenic ★★ same condition
ALG9 p.Tyr287Cys Pathogenic/Likely pathogenic ★★ same condition
ALG9 c.*1607C>T Uncertain significance ★★ same condition
ALG9 c.*1624A>C Uncertain significance ★★ same condition
ALG9 c.*1722C>T 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/alg9-c-star-2230a-c (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown