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NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
12 (Most recent: Sep 23, 2021)
Last evaluated:
May 18, 2021
Accession:
VCV000092624.11
Variation ID:
92624
Description:
single nucleotide variant
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NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr)

Allele ID
98532
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p16.3
Genomic location
4: 1002377 (GRCh38) GRCh38 UCSC
4: 996165 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P35475:p.Ala361Thr
NC_000004.11:g.996165G>A
NC_000004.12:g.1002377G>A
... more HGVS
Protein change
A361T, A229T
Other names
-
Canonical SPDI
NC_000004.12:1002376:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.21765 (A)

Allele frequency
1000 Genomes Project 0.21765
Trans-Omics for Precision Medicine (TOPMed) 0.17187
Exome Aggregation Consortium (ExAC) 0.20557
The Genome Aggregation Database (gnomAD), exomes 0.17246
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.17247
The Genome Aggregation Database (gnomAD) 0.16464
Links
ClinGen: CA145865
UniProtKB: P35475#VAR_003364
dbSNP: rs6831280
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 6 criteria provided, multiple submitters, no conflicts Nov 2, 2017 RCV000078371.11
Benign 3 criteria provided, multiple submitters, no conflicts Nov 25, 2020 RCV000332794.4
Benign 2 criteria provided, single submitter Aug 29, 2018 RCV000675607.4
Benign 1 criteria provided, single submitter May 18, 2021 RCV001526424.1
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Nov 02, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000110217.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Aug 29, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001832629.1
Submitted: (Sep 07, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 28649516, 29801497, 26256109, 27884173, 24875751)
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000302963.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis type 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000451783.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Nov 25, 2020)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis type 1
Allele origin: germline
Invitae
Accession: SCV001730207.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(May 18, 2021)
criteria provided, single submitter
Method: clinical testing
Hurler syndrome
Allele origin: germline
Pars Genome Lab
Accession: SCV001736788.1
Submitted: (Jun 12, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001744488.3
Submitted: (Sep 02, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001931408.1
Submitted: (Sep 23, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001973538.1
Submitted: (Sep 21, 2021)
Evidence details
Pathogenic
(Feb 11, 2016)
no assertion criteria provided
Method: literature only
Mucopolysaccharidosis type 1
Allele origin: germline
GeneReviews
Accession: SCV000264384.1
Submitted: (Feb 11, 2016)
Evidence details
Other databases
http://www.ncbi.nlm.nih.gov/book…
Benign
(Jan 29, 2016)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000801304.1
Submitted: (May 23, 2018)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001925736.1
Submitted: (Sep 23, 2021)
Evidence details

Functional evidence

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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

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Title Author Journal Year Link
Mucopolysaccharidosis Type I Clarke LA - 2021 PMID: 20301341
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=IDUA - - - -
http://www.ncbi.nlm.nih.gov/books/NBK1162/ - - - -

Text-mined citations for rs6831280...

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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