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NM_000046.5(ARSB):c.438G>A (p.Trp146Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 26, 2020
Accession:
VCV000559787.3
Variation ID:
559787
Description:
single nucleotide variant
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NM_000046.5(ARSB):c.438G>A (p.Trp146Ter)

Allele ID
550492
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.1
Genomic location
5: 78969067 (GRCh38) GRCh38 UCSC
5: 78264890 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.78969067C>T
NC_000005.9:g.78264890C>T
NG_007089.1:g.22468G>A
... more HGVS
Protein change
W146*
Other names
-
Canonical SPDI
NC_000005.10:78969066:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
dbSNP: rs757061042
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 Oct 26, 2020 RCV000677566.3
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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: SCV000803079.1
Submitted: (Apr 17, 2018)
Evidence details
Publications
PubMed (4)
Comment:
Nonsense variant (PVS1); Very low frequency in ExAc (PM2)
Pathogenic
(Oct 12, 2020)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis type 6
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001442541.1
Submitted: (Nov 10, 2020)
Evidence details
Publications
PubMed (3)
Comment:
Variant summary: ARSB c.438G>A (p.Trp146X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Pathogenic
(Oct 26, 2020)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis type 6
Allele origin: germline
Invitae
Accession: SCV001579934.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Trp146*) 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
Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series. Thümler A Journal of inherited metabolic disease 2012 PMID: 22441840
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
[Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients]. Voskoboeva EIu Genetika 2000 PMID: 10923267

Text-mined citations for rs757061042...

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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