Is ARSB p.Leu232fs (c.694_695del) pathogenic?

ARSB p.Leu232fs (c.694695del) is classified Likely pathogenic in ARSB (ClinVar, Single submitter, 1 submitter; last evaluated 2023-07-20). Absent from gnomAD; Associated with mucopolysaccharidosis type 6.

What condition is associated with ARSB p.Leu232fs (c.694_695del)?

ARSB p.Leu232fs (c.694_695del) is associated with mucopolysaccharidosis type 6 (ClinVar).

How common is ARSB p.Leu232fs (c.694_695del) in the general population?

ARSB p.Leu232fs (c.694_695del) is absent from gnomAD (gnomAD).

How is Mucopolysaccharidosis type 6 inherited?

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

ARSB p.Leu232fs

c.694_695del · rs2479696486 · VCV2678440

Likely pathogenic Single submitter

Classification

Likely 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

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 -6.2	GERP -4.3

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: ARSB
Protein: p.Leu232fs
Coding: c.694_695del
MANE Select: NM_020427 · reported on NM_000046
dbSNP: rs2479696486
Type: Microsatellite
Location: chr5:78955498 (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.Leu232= Likely benign ★ same residue
ARSB p.Tyr86del Pathogenic/Likely pathogenic ★★ same condition
ARSB p.Leu32del Uncertain significance ★★ same condition
ARSB p.Leu32_Ala33insLeu Uncertain significance ★ same condition
ARSB c.1337-19GTTTT[3] Likely benign ★ same condition
ARSB c.1142+1G>A Pathogenic ★★ same condition
ARSB c.1142+1G>T Pathogenic ★★ same condition
ARSB c.1142+2T>A Pathogenic/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-leu232fs (accessed [today's date]).

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