NM_000203.5(IDUA):c.1088_1089dup (p.Thr364fs) AND Mucopolysaccharidosis type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 18, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001951202.6

Allele description [Variation Report for NM_000203.5(IDUA):c.1088_1089dup (p.Thr364fs)]

NM_000203.5(IDUA):c.1088_1089dup (p.Thr364fs)

Gene:

IDUA:alpha-L-iduronidase [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

4p16.3

Genomic location:

Preferred name:

NM_000203.5(IDUA):c.1088_1089dup (p.Thr364fs)

HGVS:

NC_000004.12:g.1002382GC[3]
NG_008103.1:g.20386GC[3]
NM_000203.5:c.1088_1089dupMANE SELECT
NM_001363576.1:c.692_693dup
NP_000194.2:p.Thr364fs
NP_001350505.1:p.Thr232fs
LRG_1277t1:c.1088_1089dup
LRG_1277:g.20386GC[3]
LRG_1277p1:p.Thr364fs
NC_000004.11:g.996169_996170insGC
NC_000004.11:g.996170GC[3]
NR_110313.1:n.1174GC[3]

Protein change:

T232fs

Links:

dbSNP: rs2153022390

Molecular consequence:

NM_000203.5:c.1088_1089dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001363576.1:c.692_693dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_110313.1:n.1174GC[3] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Mucopolysaccharidosis type 1
Synonyms:: IDUA deficiency; MPS I; Mucopolysaccharidosis Type I
Identifiers:: MONDO: MONDO:0001586; MedGen: C0023786

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002245553	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 18, 2021)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 11735025, 21480867, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002245553

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 18, 2021)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.

Beesley CE, Meaney CA, Greenland G, Adams V, Vellodi A, Young EP, Winchester BG.

Hum Genet. 2001 Nov;109(5):503-11. Epub 2001 Oct 19.

PubMed [citation]

PMID:: 11735025

Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis.

Wang X, Zhang W, Shi H, Qiu Z, Meng Y, Yao F, Wei M.

Clin Genet. 2012 May;81(5):443-52. doi: 10.1111/j.1399-0004.2011.01680.x. Epub 2011 May 16. Erratum in: Clin Genet. 2012 May;81(5):501.

PubMed [citation]

PMID:: 21480867

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002245553.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Thr364Alafs*77) in the IDUA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IDUA are known to be pathogenic (PMID: 11735025, 21480867). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with IDUA-related conditions.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 23, 2026

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