Is ALDOA p.Ile240= (c.720C>T) pathogenic?

ALDOA p.Ile240= (c.720C>T) is classified Likely benign in ALDOA (ClinVar, Single submitter, 2 submitters; last evaluated 2025-03-18). Rare (popmax 0.145%, sas); Associated with glycogen storage disease due to aldolase A deficiency.

What condition is associated with ALDOA p.Ile240= (c.720C>T)?

ALDOA p.Ile240= (c.720C>T) is associated with glycogen storage disease due to aldolase A deficiency (ClinVar).

How common is ALDOA p.Ile240= (c.720C>T) in the general population?

ALDOA p.Ile240= (c.720C>T) is rare (popmax 0.145%, sas) (gnomAD).

ALDOA p.Ile240=

Q: How is Glycogen storage disease due to aldolase A deficiency inherited?

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

c.720C>T · rs573479181 · VCV1399594

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

rare (popmax 0.145%, sas)

Conditions

glycogen storage disease due to aldolase A deficiency

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -9.1	GERP -3.9
Overall
CADD	5.8	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.145% South Asian · 132/91,082 alleles

Filtering AF 0.125% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.117%

Overall 0.00923% 149/1,614,188 alleles · rare

Ancestry group	Frequency	1 in
South Asiangrpmax	0.145%	690
Middle Eastern	0.0165%	6,062
Remaining individualsnot grpmax-eligible	0.0064%	15,626
Admixed American	0.005%	20,009
African / African-American	0.00267%	37,520
European (non-Finnish)	0.000593%	168,576

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: ALDOA
Protein: p.Ile240=
Coding: c.720C>T
dbSNP: rs573479181
Type: single nucleotide variant
Location: chr16:30069323 (GRCh38)

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

Disease context

glycogen storage disease due to aldolase A deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Glycogen storage disease due to aldolase A deficiency (Orphanet):

Inheritance: Autosomal recessive
Onset: Neonatal

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/aldoa-p-ile240 (accessed [today's date]).

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