SUOX p.Ser23fs
c.66del · VCV3641247
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
isolated sulfite oxidase deficiency
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 4 of 5 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.17 | GERP -1.5 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- SUOX
- Protein
- p.Ser23fs
- Coding
- c.66del
- MANE Select
- NM_001032386
- Type
- Deletion
- Location
- chr12:56002555 (GRCh38)
- Gene constraint
- LOEUF 1.128 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.99 · 1 PDB
Disease context
isolated sulfite oxidase deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Encephalopathy due to sulfite oxidase deficiency (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Antenatal, Infancy, Neonatal
Similar variants
- SUOX p.Ser23del Uncertain significance ★★ same residue
- SUOX p.Asp174fs Likely pathogenic ★★ same condition
- SUOX p.Leu281fs Pathogenic/Likely pathogenic ★★ same condition
- SUOX p.Val142fs Pathogenic ★★ same condition
- SUOX p.Val438fs Pathogenic/Likely pathogenic ★★ same condition
- SUOX c.51-1del Likely pathogenic ★ same condition
- SUOX p.Ala128fs Pathogenic ★ same condition
- SUOX p.Ala349_Tyr350insTer 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/suox-p-ser23fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown