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NM_000046.5(ARSB):c.574T>C (p.Cys192Arg)

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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:
Jan 15, 2020
Accession:
VCV000559798.3
Variation ID:
559798
Description:
single nucleotide variant
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NM_000046.5(ARSB):c.574T>C (p.Cys192Arg)

Allele ID
550481
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.1
Genomic location
5: 78964532 (GRCh38) GRCh38 UCSC
5: 78260355 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.78964532A>G
NC_000005.9:g.78260355A>G
NG_007089.1:g.27003T>C
... more HGVS
Protein change
C192R
Other names
-
Canonical SPDI
NC_000005.10:78964531:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1554087423
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 Jan 15, 2020 RCV000677578.3
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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: SCV000803094.1
Submitted: (Apr 17, 2018)
Evidence details
Publications
PubMed (9)
Comment:
In vitro functional studies supportive of a damaging effect on the gene product (low to no ARSB activity in homozygotes; PS3); Absent from GnomAD (PM2)
Pathogenic
(Jan 15, 2020)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis type 6
Allele origin: germline
Invitae
Accession: SCV001235859.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces cysteine with arginine at codon 192 of the ARSB protein (p.Cys192Arg). The cysteine 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
Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey. Kılıç M American journal of medical genetics. Part A 2017 PMID: 28884960
Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome. Jester S Orphanet journal of rare diseases 2013 PMID: 24107440
A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan. Lin SP Orphanet journal of rare diseases 2013 PMID: 24053568
Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series. Thümler A Journal of inherited metabolic disease 2012 PMID: 22441840
Mutational analysis of 105 mucopolysaccharidosis type VI patients. Karageorgos L Human mutation 2007 PMID: 17458871
Mucopolysaccharidosis type VI: Report of two Taiwanese patients and identification of one novel mutation. Yang CF Journal of the Formosan Medical Association = Taiwan yi zhi 2001 PMID: 11802522
A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome). Wu JY Human mutation 2000 PMID: 10738004
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 rs1554087423...

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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