Is ALDOA p.Ser10= (c.30C>T) pathogenic?

ALDOA p.Ser10= (c.30C>T) is classified Likely benign in ALDOA (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-09-17). Very rare (popmax 0.00628%, nfe); Associated with ALDOA-related disorder.

What condition is associated with ALDOA p.Ser10= (c.30C>T)?

ALDOA p.Ser10= (c.30C>T) is associated with ALDOA-related disorder (ClinVar).

How common is ALDOA p.Ser10= (c.30C>T) in the general population?

ALDOA p.Ser10= (c.30C>T) is very rare (popmax 0.00628%, nfe) (gnomAD).

ALDOA p.Ser10=

c.30C>T · rs780378047 · VCV3040743

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00628%, nfe)

Conditions

ALDOA-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	all four deltas below 0.2 · C>G here scores Δ0.21 · evaluated, not missing
Constraint at this position
Conservation	phyloP 2.6	GERP 0.72, phastCons 0.93
Overall
CADD	13.2	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00628% European (non-Finnish) · 72/1,147,098 alleles

Filtering AF 0.00509% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00467%

Overall 0.00503% 78/1,550,860 alleles · very rare

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.00628%	15,932
Admixed American	0.00392%	25,506
Remaining individualsnot grpmax-eligible	0.00333%	30,070
Finnishnot grpmax-eligible	0.0017%	58,868
African / African-American	0.00137%	73,192

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.Ser10=
Coding: c.30C>T
MANE Select: NM_001243177
dbSNP: rs780378047
Type: single nucleotide variant
Location: chr16:30066927 (GRCh38)
Gene constraint: LOEUF 0.821 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 96.53 · 8 PDB
Residue 10: an α-helix

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

Disease context

ALDOA-related disorder

Similar variants

ALDOA p.Phe22Leu Uncertain significance ★ same condition
ALDOA p.Ala334Val Pathogenic/Likely pathogenic ★★ same type
ALDOA c.274+5G>A Uncertain significance ★★ same type
ALDOA p.Ala142Val Uncertain significance ★★ same type
ALDOA p.Ala217Thr Uncertain significance ★★ same type
ALDOA p.Ala310Val Uncertain significance ★★ same type
ALDOA p.Ala377Ser Uncertain significance ★★ same type
ALDOA p.Ala74Thr Uncertain significance ★★ same type

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-ser10 (accessed [today's date]).

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