Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn)

Help
Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
May 20, 2020
Accession:
VCV000092623.4
Variation ID:
92623
Description:
single nucleotide variant
Help

NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn)

Allele ID
98531
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p16.3
Genomic location
4: 1002341 (GRCh38) GRCh38 UCSC
4: 996129 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.996129G>A
NC_000004.12:g.1002341G>A
NG_008103.1:g.20345G>A
... more HGVS
Protein change
D349N, D217N
Other names
-
Canonical SPDI
NC_000004.12:1002340:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00005
Links
dbSNP: rs368454909
ClinGen: CA220497
UniProtKB: P35475#VAR_003362
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Nov 30, 2012 RCV000180110.1
Likely pathogenic 2 criteria provided, single submitter May 20, 2020 RCV001248916.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
IDUA - - GRCh38
GRCh37
569 944

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 30, 2012)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000232486.5
Submitted: (Jun 30, 2017)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely pathogenic
(May 20, 2020)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis type 1
Allele origin: germline
Invitae
Accession: SCV001576109.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces aspartic acid with asparagine at codon 349 of the IDUA protein (p.Asp349Asn). The aspartic acid residue is highly conserved and there … (more)
Likely pathogenic
(Jan 14, 2020)
no assertion criteria provided
Method: curation
Mucopolysaccharidosis type 1
(Autosomal recessive inheritance)
Allele origin: germline
Broad Institute Rare Disease Group, Broad Institute
Accession: SCV001422672.1
Submitted: (Mar 09, 2020)
Evidence details
Publications
PubMed (4)
Other databases
https://erepo.clinicalgenome.org…
Comment:
The p.Asp349Asn variant in IDUA has been reported in 2 individuals with mucopolysaccharidosis (MPS) (PMID: 1627351, 8680403) and has been identified in 0.006% (1/15972) of … (more)

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry. Clarke LA Clinical genetics 2019 PMID: 31194252
Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase. Bie H Nature chemical biology 2013 PMID: 24036510
Human α-L-iduronidase uses its own N-glycan as a substrate-binding and catalytic module. Maita N Proceedings of the National Academy of Sciences of the United States of America 2013 PMID: 23959878
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. Matte U Molecular genetics and metabolism 2003 PMID: 12559846
Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations. Venturi N Human mutation 2002 PMID: 12203999
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. Scott HS Human mutation 1995 PMID: 8680403
Hurler syndrome: a patient with abnormally high levels of alpha-L-iduronidase protein. Brooks DA Biochemical medicine and metabolic biology 1992 PMID: 1627351
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=IDUA - - - -
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/6669da7c-3819-4856-940e-d9107f1bf2bc - - - -

Text-mined citations for rs368454909...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 16, 2021