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NM_000046.5(ARSB):c.943C>T (p.Arg315Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 17, 2018)
Last evaluated:
Jan 1, 2018
Accession:
VCV000559828.3
Variation ID:
559828
Description:
single nucleotide variant
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NM_000046.5(ARSB):c.943C>T (p.Arg315Ter)

Allele ID
550451
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.1
Genomic location
5: 78885783 (GRCh38) GRCh38 UCSC
5: 78181606 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000046.5:c.943C>T MANE Select NP_000037.2:p.Arg315Ter nonsense
NM_198709.3:c.943C>T NP_942002.1:p.Arg315Ter nonsense
NC_000005.10:g.78885783G>A
... more HGVS
Protein change
R315*
Other names
-
Canonical SPDI
NC_000005.10:78885782:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs891298440
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jan 1, 2018 RCV000677611.3
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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
570 583

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely 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: SCV000803128.1
Submitted: (Apr 17, 2018)
Evidence details
Publications
PubMed (7)
Comment:
Nonsense variant (PVS1); Very low frequency in ExAC (PM2)

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 characteristics of patients with glycosaminoglycan storage disorders in Russia. Chistiakov DA Clinica chimica acta; international journal of clinical chemistry 2014 PMID: 24875751
A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan. Lin SP Orphanet journal of rare diseases 2013 PMID: 24053568
Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient. Villani GR Genetic testing and molecular biomarkers 2010 PMID: 20143913
Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease. Di Natale P Biotechnology and applied biochemistry 2008 PMID: 17672828
[Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients]. Voskoboeva EIu Genetika 2000 PMID: 10923267

Text-mined citations for rs891298440...

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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 Nov 27, 2021