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NM_000046.5(ARSB):c.1394C>G (p.Ser465Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 9, 2020)
Last evaluated:
Aug 23, 2020
Accession:
VCV000559711.2
Variation ID:
559711
Description:
single nucleotide variant
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NM_000046.5(ARSB):c.1394C>G (p.Ser465Ter)

Allele ID
550401
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.1
Genomic location
5: 78780605 (GRCh38) GRCh38 UCSC
5: 78076428 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.78780605G>C
NC_000005.9:g.78076428G>C
NG_007089.1:g.210930C>G
NM_000046.5:c.1394C>G MANE Select NP_000037.2:p.Ser465Ter nonsense
Protein change
S465*
Other names
-
Canonical SPDI
NC_000005.10:78780604:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1209412483
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 Aug 23, 2020 RCV000677485.2
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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: SCV000802994.1
Submitted: (Apr 17, 2018)
Evidence details
Publications
PubMed (2)
Comment:
Nonsense variant (PVS1); Absent from GnomAD (PM2)
Likely pathogenic
(Aug 23, 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: SCV001431914.1
Submitted: (Sep 09, 2020)
Evidence details
Publications
PubMed (2)
Comment:
Variant summary: ARSB c.1394C>G (p.Ser465X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the 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
A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan. Lin SP Orphanet journal of rare diseases 2013 PMID: 24053568
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients. Lin WD Clinica chimica acta; international journal of clinical chemistry 2008 PMID: 18486607

Text-mined citations for rs1209412483...

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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