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.701G>C (p.Ser234Thr)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: May 26, 2021)
Last evaluated:
Dec 5, 2020
Accession:
VCV000456719.7
Variation ID:
456719
Description:
single nucleotide variant
Help

NM_000203.5(IDUA):c.701G>C (p.Ser234Thr)

Allele ID
453618
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p16.3
Genomic location
4: 1001790 (GRCh38) GRCh38 UCSC
4: 995578 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.12:g.1001790G>C
NC_000004.11:g.995578G>C
NM_000203.5:c.701G>C MANE Select NP_000194.2:p.Ser234Thr missense
... more HGVS
Protein change
S234T, S102T
Other names
-
Canonical SPDI
NC_000004.12:1001789:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00040
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00077
The Genome Aggregation Database (gnomAD) 0.00080
The Genome Aggregation Database (gnomAD), exomes 0.00020
1000 Genomes Project 0.00040
Trans-Omics for Precision Medicine (TOPMed) 0.00081
Links
ClinGen: CA2802058
dbSNP: rs201826605
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, single submitter Dec 5, 2020 RCV000553823.5
Uncertain significance 1 criteria provided, single submitter Dec 3, 2020 RCV001329096.1
Uncertain significance 1 criteria provided, single submitter Mar 29, 2020 RCV001509227.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
IDUA - - GRCh38
GRCh37
575 954

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-I-S
Allele origin: unknown
Baylor Genetics
Accession: SCV001520423.1
Submitted: (Feb 21, 2021)
Evidence details
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Likely benign
(Dec 05, 2020)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis type 1
Allele origin: germline
Invitae
Accession: SCV000627150.4
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Mar 29, 2020)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001715829.1
Submitted: (May 26, 2021)
Evidence details
Uncertain significance
(Jun 02, 2020)
no assertion criteria provided
Method: clinical testing
Mucopolysaccharidosis type I
Allele origin: germline
Natera, Inc.
Accession: SCV001457278.1
Submitted: (Dec 28, 2020)
Evidence details

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
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs201826605...

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 Jun 14, 2021