Is AGA p.Gln68fs (c.200_201dup) pathogenic?

AGA p.Gln68fs (c.200201dup) is classified Likely pathogenic in AGA (ClinVar, Single submitter, 1 submitter; last evaluated 2022-10-25). Absent from gnomAD; Associated with aspartylglucosaminuria.

What condition is associated with AGA p.Gln68fs (c.200_201dup)?

AGA p.Gln68fs (c.200_201dup) is associated with aspartylglucosaminuria (ClinVar).

How common is AGA p.Gln68fs (c.200_201dup) in the general population?

AGA p.Gln68fs (c.200_201dup) is absent from gnomAD (gnomAD).

How is Aspartylglucosaminuria inherited?

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

AGA p.Gln68fs

c.200_201dup · rs386833420 · VCV2680811

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

aspartylglucosaminuria

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 2 of 9
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 8.6	GERP 1.9, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: AGA
Protein: p.Gln68fs
Coding: c.200_201dup
MANE Select: NM_000027
dbSNP: rs386833420
Type: Microsatellite
Location: chr4:177440352 (GRCh38)
Gene constraint: LOEUF 0.938 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 91.41 · 2 PDB
Residue 68: a disulfide bond

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

Disease context

aspartylglucosaminuria — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Aspartylglucosaminuria (Orphanet):

Inheritance: Autosomal recessive
Onset: Childhood
Prevalence: 1-9 / 1 000 000 (Australia)

Similar variants

AGA p.Gln68Ter Pathogenic ★ same residue
AGA p.Gln68= Likely benign ★ same residue
AGA p.Arg66fs Pathogenic/Likely pathogenic ★★ same condition
AGA p.Glu130fs Pathogenic/Likely pathogenic ★★ same condition
AGA p.Glu67fs Pathogenic ★★ same condition
AGA p.Thr125fs Pathogenic/Likely pathogenic ★★ same condition
AGA p.Gly279del Uncertain significance ★★ same condition
AGA c.127+1G>A Likely pathogenic ★★ 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/aga-p-gln68fs (accessed [today's date]).

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