Is ASS1 c.366delG pathogenic?

ASS1 c.366delG is classified Pathogenic in ASS1 (ClinVar, Single submitter, 2 submitters; last evaluated 2022-04-12). Absent from gnomAD; Associated with citrullinemia.

What condition is associated with ASS1 c.366delG?

ASS1 c.366delG is associated with citrullinemia, citrullinemia type I (ClinVar).

How common is ASS1 c.366delG in the general population?

ASS1 c.366delG is absent from gnomAD (gnomAD).

ASS1 c.366delG

rs1057516544 · VCV370508

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 2 submitters

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

citrullinemia

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 1.1, phastCons 1

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: ASS1
Coding: c.366delG
MANE Select: NM_054012 · reported on NM_000050
dbSNP: rs1057516544
Type: Deletion
Location: chr9:130464110 (GRCh38)
Gene constraint: LOEUF 1.14 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 95.64 · 1 PDB

Full ASS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

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

Also linked: citrullinemia type I

Similar variants

ASS1 p.Arg95fs Likely pathogenic ★★ same condition
ASS1 p.Gln107fs Pathogenic/Likely pathogenic ★★ same condition
ASS1 p.Gln350fs Likely pathogenic ★★ same condition
ASS1 p.Glu283fs Pathogenic ★★ same condition
ASS1 p.Glu298fs Pathogenic ★★ same condition
ASS1 p.Phe150fs Pathogenic/Likely pathogenic ★★ same condition
ASS1 p.Phe154fs Pathogenic/Likely pathogenic ★★ same condition
ASS1 p.Phe317fs 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/ass1-c-366delg (accessed [today's date]).

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