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NM_000046.5(ARSB):c.1507C>T (p.Gln503Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Apr 27, 2021)
Last evaluated:
Apr 14, 2021
Accession:
VCV000559719.2
Variation ID:
559719
Description:
single nucleotide variant
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NM_000046.5(ARSB):c.1507C>T (p.Gln503Ter)

Allele ID
550394
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.1
Genomic location
5: 78780492 (GRCh38) GRCh38 UCSC
5: 78076315 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.78780492G>A
NC_000005.9:g.78076315G>A
NG_007089.1:g.211043C>T
NM_000046.5:c.1507C>T MANE Select NP_000037.2:p.Gln503Ter nonsense
Protein change
Q503*
Other names
-
Canonical SPDI
NC_000005.10:78780491:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
dbSNP: rs771113472
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Apr 14, 2021 RCV000677494.2
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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
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: SCV000803004.1
Submitted: (Apr 17, 2018)
Evidence details
Publications
PubMed (2)
Comment:
Nonsense variant (PVS1); Very low frequency in ExAC (PM2)
Likely pathogenic
(Apr 14, 2021)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis type 6
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001572523.1
Submitted: (Apr 27, 2021)
Evidence details
Publications
PubMed (4)
Comment:
Variant summary: ARSB c.1507C>T (p.Gln503X) results in a premature termination codon in the last exon, which is not expected to result in nonsense mediated decay … (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
Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases. Gómez-Grau M PloS one 2015 PMID: 26287674
Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI. Bartolomeo R Journal of inherited metabolic disease 2013 PMID: 22971959
Maroteaux-lamy syndrome: five novel mutations and their structural localization. Villani GR Biochimica et biophysica acta 1999 PMID: 10036316

Text-mined citations for rs771113472...

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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