ASL p.Arg193=
c.579G>C · rs2115725998 · VCV1607525
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
argininosuccinic aciduria
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 0.49 | GERP -3.1, phastCons 0.79 |
| Overall | ||
| CADD | 5.718 | 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
- ASL
- Protein
- p.Arg193=
- Coding
- c.579G>C
- MANE Select
- NM_000048
- dbSNP
- rs2115725998
- Type
- single nucleotide variant
- Location
- chr7:66086798 (GRCh38)
- Gene constraint
- LOEUF 0.937 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 96.51 · 2 PDB
- Residue 193
- a UniProt-annotated variant site (in arginsa); an α-helix
Disease context
argininosuccinic aciduria — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Argininosuccinic aciduria (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- All ages
- Prevalence
- 1-9 / 1 000 000 (United States)
Similar variants
- ASL p.Arg193Gln Pathogenic/Likely pathogenic ★★ ⚠ same residue
- ASL p.Arg193Trp Pathogenic/Likely pathogenic ★★ ⚠ same residue
- ASL c.1062+5G>C Likely pathogenic ★★ same condition
- ASL c.1143+1G>T Pathogenic/Likely pathogenic ★★ same condition
- ASL c.13-1G>C Pathogenic/Likely pathogenic ★★ same condition
- ASL c.291+1G>T Likely pathogenic ★★ same condition
- ASL c.348+1G>A Pathogenic/Likely pathogenic ★★ same condition
- ASL c.349-1G>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/asl-p-arg193 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown