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NM_000046.5(ARSB):c.430G>A (p.Gly144Arg)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Aug 30, 2021)
Last evaluated:
Jul 22, 2021
Accession:
VCV000559783.4
Variation ID:
559783
Description:
single nucleotide variant
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NM_000046.5(ARSB):c.430G>A (p.Gly144Arg)

Allele ID
550496
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.1
Genomic location
5: 78969075 (GRCh38) GRCh38 UCSC
5: 78264898 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.78969075C>T
NC_000005.9:g.78264898C>T
NG_007089.1:g.22460G>A
... more HGVS
Protein change
G144R
Other names
-
Canonical SPDI
NC_000005.10:78969074:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD) 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Links
dbSNP: rs746206847
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 3 criteria provided, multiple submitters, no conflicts Jul 22, 2021 RCV000677562.4
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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: SCV000803075.1
Submitted: (Apr 17, 2018)
Evidence details
Publications
PubMed (6)
Comment:
In vitro functional studies supportive of a damaging effect on the gene product (low to no ARSB activity in homozygotes; PS3); Very low frequency in … (more)
Pathogenic
(Nov 28, 2019)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis type 6
Allele origin: germline
Invitae
Accession: SCV001225796.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces glycine with arginine at codon 144 of the ARSB protein (p.Gly144Arg). The glycine residue is highly conserved and there is a … (more)
Likely pathogenic
(Jul 22, 2021)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis type 6
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001810267.1
Submitted: (Aug 30, 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
Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI. Jafaryazdi R Molecular biology reports 2019 PMID: 30982216
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
Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome). Giraldo GA Meta gene 2015 PMID: 26909334
Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia. Chistiakov DA Clinica chimica acta; international journal of clinical chemistry 2014 PMID: 24875751
Mutational analysis of 105 mucopolysaccharidosis type VI patients. Karageorgos L Human mutation 2007 PMID: 17458871
Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients. Petry MF Journal of inherited metabolic disease 2005 PMID: 16435196
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes. Isbrandt D American journal of human genetics 1994 PMID: 8116615

Text-mined citations for rs746206847...

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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