Is ARSB p.Leu129del (c.384_386del) pathogenic?

ARSB p.Leu129del (c.384386del) is classified Uncertain significance in ARSB (ClinVar, Single submitter, 1 submitter; last evaluated 2018-01-01). Absent from gnomAD; Associated with mucopolysaccharidosis type 6.

What condition is associated with ARSB p.Leu129del (c.384_386del)?

ARSB p.Leu129del (c.384_386del) is associated with mucopolysaccharidosis type 6 (ClinVar).

How common is ARSB p.Leu129del (c.384_386del) in the general population?

ARSB p.Leu129del (c.384_386del) 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.Leu129del

c.384_386del · rs1180227844 · VCV559776

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

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.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.84	GERP -1.8, phastCons 1

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.Leu129del
Coding: c.384_386del
MANE Select: NM_020427 · reported on NM_000046
dbSNP: rs1180227844
Type: Deletion
Location: chr5:78969119 (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.Leu129fs Pathogenic ★ same residue
ARSB p.Leu129= Likely benign ★ same residue
ARSB p.Ala39fs Pathogenic ★★ same condition
ARSB p.Gly38fs Pathogenic/Likely pathogenic ★★ same condition
ARSB p.Gly40fs Pathogenic/Likely pathogenic ★★ same condition
ARSB p.Leu354fs Pathogenic/Likely pathogenic ★★ same condition
ARSB p.Pro248fs Pathogenic ★★ same condition
ARSB p.Ser37fs 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-leu129del (accessed [today's date]).

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