Is ALDOA p.Pro243= (c.729T>C) pathogenic?

ALDOA p.Pro243= (c.729T>C) is classified Likely benign in ALDOA (ClinVar, Single submitter, 1 submitter; last evaluated 2022-08-16). Absent from gnomAD v4.1; Associated with glycogen storage disease due to aldolase A deficiency.

What condition is associated with ALDOA p.Pro243= (c.729T>C)?

ALDOA p.Pro243= (c.729T>C) is associated with glycogen storage disease due to aldolase A deficiency (ClinVar).

How common is ALDOA p.Pro243= (c.729T>C) in the general population?

ALDOA p.Pro243= (c.729T>C) is absent from gnomAD v4.1 (gnomAD).

ALDOA p.Pro243=

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.729T>C · rs2543613661 · VCV2113231

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

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 assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -5.2	GERP -3.9
Overall
CADD	3.101	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: ALDOA
Protein: p.Pro243=
Coding: c.729T>C
MANE Select: NM_001243177
dbSNP: rs2543613661
Type: single nucleotide variant
Location: chr16:30069332 (GRCh38)
Gene constraint: LOEUF 0.821 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 96.53 · 8 PDB

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

Similar variants

ALDOA p.Ala334Val Pathogenic/Likely pathogenic ★★ same condition
ALDOA c.274+5G>A Uncertain significance ★★ same condition
ALDOA p.Ala142Val Uncertain significance ★★ same condition
ALDOA p.Ala217Thr Uncertain significance ★★ ⚠ same condition
ALDOA p.Ala310Val Uncertain significance ★★ ⚠ same condition
ALDOA p.Ala377Ser Uncertain significance ★★ ⚠ same condition
ALDOA p.Ala74Thr Uncertain significance ★★ ⚠ same condition
ALDOA p.Arg146Cys 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/aldoa-p-pro243 (accessed [today's date]).

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