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NM_000046.5(ARSB):c.937C>G (p.Pro313Ala)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 25, 2020
Accession:
VCV000559826.2
Variation ID:
559826
Description:
single nucleotide variant
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NM_000046.5(ARSB):c.937C>G (p.Pro313Ala)

Allele ID
550453
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.1
Genomic location
5: 78885789 (GRCh38) GRCh38 UCSC
5: 78181612 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.78885789G>C
NC_000005.9:g.78181612G>C
NG_007089.1:g.105746C>G
... more HGVS
Protein change
P313A
Other names
-
Canonical SPDI
NC_000005.10:78885788:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00005
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs749989641
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 2 criteria provided, multiple submitters, no conflicts Aug 25, 2020 RCV000677609.2
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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
565 578

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: SCV000803126.1
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
(Aug 25, 2020)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis type 6
Allele origin: germline
Invitae
Accession: SCV001586724.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces proline with alanine at codon 313 of the ARSB protein (p.Pro313Ala). The proline residue is highly conserved and there is a … (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
A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI. Oussoren E Molecular genetics and metabolism 2017 PMID: 28552677
Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Uttarilli A Gene 2017 PMID: 27826022
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase. Brands MM Orphanet journal of rare diseases 2013 PMID: 23557332
Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene. Garrido E Molecular genetics and metabolism 2008 PMID: 18406185
Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations. Garrido E Molecular genetics and metabolism 2007 PMID: 17643332
Mutational analysis of 105 mucopolysaccharidosis type VI patients. Karageorgos L Human mutation 2007 PMID: 17458871
Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase protein. Brooks DA The Biochemical journal 1995 PMID: 7733883

Text-mined citations for rs749989641...

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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