Is SUOX p.Arg366fs (c.1096dup) pathogenic?

SUOX p.Arg366fs (c.1096dup) is classified Pathogenic in SUOX (ClinVar, Single submitter, 1 submitter). No gnomAD frequency available for this variant; Associated with isolated sulfite oxidase deficiency.

What condition is associated with SUOX p.Arg366fs (c.1096dup)?

SUOX p.Arg366fs (c.1096dup) is associated with isolated sulfite oxidase deficiency (ClinVar).

How common is SUOX p.Arg366fs (c.1096dup) in the general population?

SUOX p.Arg366fs (c.1096dup) is no gnomAD frequency available for this variant (gnomAD).

SUOX p.Arg366fs

Q: How is Encephalopathy due to sulfite oxidase deficiency inherited?

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

c.1096dup · rs1890663087 · VCV1344577

Pathogenic Single submitter

Classification

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

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	escapes	premature termination codon in the last exon (5 of 5) — the truncated protein is likely expressed. PVS1 input, not an applied code
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.4	GERP -2.2, phastCons 0.88

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: SUOX
Protein: p.Arg366fs
Coding: c.1096dup
MANE Select: NM_001032386
dbSNP: rs1890663087
Type: Duplication
Location: chr12:56004484 (GRCh38)
Gene constraint: LOEUF 1.128 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 84.99 · 1 PDB
Residue 366: a binding site; a UniProt-annotated variant site (in isod); the 'moco domain' region

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

Disease context

isolated sulfite oxidase deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Encephalopathy due to sulfite oxidase deficiency (Orphanet):

Inheritance: Autosomal recessive
Onset: Antenatal, Infancy, Neonatal

Similar variants

SUOX p.Arg366His Pathogenic/Likely pathogenic ★★ same residue
SUOX p.Arg366Cys Conflicting classifications of pathogenicity ★ ⚠ same residue
SUOX p.Asn49delinsArgTer Pathogenic ★★ same condition
SUOX p.Arg17fs Pathogenic ★ same condition
SUOX p.Asp461fs Pathogenic ★ same condition
SUOX p.Asp48Ter Pathogenic ★ same condition
SUOX p.Glu271Ter Likely pathogenic ★ same condition
SUOX p.Pro122fs 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-arg366fs (accessed [today's date]).

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