Is ARSB p.Ala267fs (c.791_798dup) pathogenic?

ARSB p.Ala267fs (c.791798dup) is classified Likely pathogenic in ARSB (ClinVar, Single submitter, 1 submitter; last evaluated 2024-03-05). Associated with mucopolysaccharidosis type 6.

What condition is associated with ARSB p.Ala267fs (c.791_798dup)?

ARSB p.Ala267fs (c.791_798dup) is associated with mucopolysaccharidosis type 6 (ClinVar).

How is Mucopolysaccharidosis type 6 inherited?

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

ARSB p.Ala267fs

c.791_798dup · VCV3592772

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

mucopolysaccharidosis type 6

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function; NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.6	GERP 2.1, phastCons 1

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

Variant & gene context

Gene: ARSB
Protein: p.Ala267fs
Coding: c.791_798dup
MANE Select: NM_020427 · reported on NM_000046
Type: Duplication
Location: chr5:78955394 (GRCh38)
Structure: AlphaFold pLDDT 84.32 · 2 PDB

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

Disease context

mucopolysaccharidosis type 6 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Mucopolysaccharidosis type 6 (Orphanet):

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

Similar variants

ARSB p.Ala41fs Pathogenic/Likely pathogenic ★★ same condition
ARSB p.Arg434Ter Pathogenic/Likely pathogenic ★★ same condition
ARSB p.Pro123fs Pathogenic/Likely pathogenic ★★ same condition
ARSB p.Ser120fs Pathogenic/Likely pathogenic ★★ same condition
ARSB p.Val22fs Pathogenic/Likely pathogenic ★★ same condition
ARSB c.-310-3dup Benign ★★ same condition
ARSB p.Arg388fs Likely pathogenic ★ same condition
ARSB p.His430fs 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/arsb-p-ala267fs (accessed [today's date]).

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