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NM_000046.5(ARSB):c.571C>T (p.Arg191Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 15, 2019
Accession:
VCV000488679.5
Variation ID:
488679
Description:
single nucleotide variant
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NM_000046.5(ARSB):c.571C>T (p.Arg191Ter)

Allele ID
481745
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.1
Genomic location
5: 78964535 (GRCh38) GRCh38 UCSC
5: 78260358 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.78964535G>A
NC_000005.9:g.78260358G>A
NG_007089.1:g.27000C>T
... more HGVS
Protein change
R191*
Other names
-
Canonical SPDI
NC_000005.10:78964534:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00004
Links
ClinGen: CA121104145
dbSNP: rs371886102
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Sep 15, 2019 RCV000677577.4
Pathogenic 1 criteria provided, single submitter Nov 1, 2017 RCV000579053.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ARSB - - GRCh38
GRCh37
563 576

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 01, 2018)
criteria provided, single submitter
Method: curation
Mucopolysaccharidosis type 6
Allele origin: germline
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova
Accession: SCV000803093.1
Submitted: (Apr 17, 2018)
Evidence details
Publications
PubMed (3)
Comment:
Nonsense variant (PVS1); Absent from Gnomad (PM2); Reputable source identifies as pathogenic (PP5)
Pathogenic
(Nov 01, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000680500.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R191X variant in the ARSB gene has been reported previously in the homozygous and the heterozygous state, in the presence of a second ARSB … (more)
Pathogenic
(Sep 15, 2019)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis type 6
Allele origin: germline
Invitae
Accession: SCV000933484.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change creates a premature translational stop signal (p.Arg191*) in the ARSB gene. It is expected to result in an absent or disrupted protein … (more)

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 VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene. Tomanin R Human mutation 2018 PMID: 30118150
Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial. Ferla R Human gene therapy 2015 PMID: 25654180
Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia. Jurecka A Molecular genetics and metabolism 2012 PMID: 22133300
Mutational analysis of 105 mucopolysaccharidosis type VI patients. Karageorgos L Human mutation 2007 PMID: 17458871
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy. Karageorgos L Molecular genetics and metabolism 2007 PMID: 17161971

Text-mined citations for rs371886102...

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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 08, 2021