Is IDS p.Asp320Ter (c.957_958insT) pathogenic?

IDS p.Asp320Ter (c.957958insT) is classified Pathogenic in IDS (ClinVar, Single submitter, 1 submitter; last evaluated 2024-06-07). Associated with mucopolysaccharidosis type 2.

What condition is associated with IDS p.Asp320Ter (c.957_958insT)?

IDS p.Asp320Ter (c.957_958insT) is associated with mucopolysaccharidosis type 2 (ClinVar).

How is Mucopolysaccharidosis type 2 inherited?

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

IDS p.Asp320Ter

c.957_958insT · VCV3255892

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Rare

Conditions

mucopolysaccharidosis type 2

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	nonsense (stop-gain)	predicted loss-of-function in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 7 of 9
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.4	GERP 1.6, phastCons 0.2

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

Variant & gene context

Gene: IDS
Protein: p.Asp320Ter
Coding: c.957_958insT
MANE Select: NM_000202
Type: Insertion
Location: chrX:149490362 (GRCh38)
Structure: AlphaFold pLDDT 93.39 · 2 PDB
Residue 320: an α-helix

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

Disease context

mucopolysaccharidosis type 2 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Mucopolysaccharidosis type 2 (Orphanet):

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

Similar variants

IDS p.Asp320Asn Uncertain significance ★★ ⚠ same residue
IDS c.240+2_240+3insTCCCAGA Likely pathogenic ★ same condition
IDS p.Ala30fs Pathogenic ★ same condition
IDS p.Ala414fs Pathogenic ★ same condition
IDS p.Asn38fs Likely pathogenic ★ same condition
IDS p.Asp147fs Pathogenic ★ same condition
IDS p.Gln121fs Pathogenic ★ same condition
IDS p.Gln272fs 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/ids-p-asp320ter (accessed [today's date]).

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