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NM_000046.5(ARSB):c.215T>G (p.Leu72Arg)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
May 11, 2020
Accession:
VCV000559740.5
Variation ID:
559740
Description:
single nucleotide variant
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NM_000046.5(ARSB):c.215T>G (p.Leu72Arg)

Allele ID
550539
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.1
Genomic location
5: 78985034 (GRCh38) GRCh38 UCSC
5: 78280857 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.78985034A>C
NC_000005.9:g.78280857A>C
NG_007089.1:g.6501T>G
... more HGVS
Protein change
L72R
Other names
-
Canonical SPDI
NC_000005.10:78985033:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00000
Links
dbSNP: rs397514441
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 4 criteria provided, multiple submitters, no conflicts May 11, 2020 RCV000677516.5
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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: SCV000803026.1
Submitted: (Apr 17, 2018)
Evidence details
Publications
PubMed (5)
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); … (more)
Pathogenic
(May 07, 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: SCV001370604.1
Submitted: (Jul 01, 2020)
Evidence details
Publications
PubMed (3)
Comment:
Variant summary: ARSB c.215T>G (p.Leu72Arg) results in a non-conservative amino acid change located in the Sulfatase, N-terminal domain (IPR000917) of the encoded protein sequence. Five … (more)
Pathogenic
(May 11, 2020)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis type 6
Allele origin: germline
Invitae
Accession: SCV000955328.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces leucine with arginine at codon 72 of the ARSB protein (p.Leu72Arg). The leucine residue is moderately conserved and there is a … (more)
Likely pathogenic
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Mucopolysaccharidosis type VI
Allele origin: germline
Natera, Inc.
Accession: SCV001457630.1
Submitted: (Dec 28, 2020)
Evidence details

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
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI]. Zheng J Zhonghua er ke za zhi = Chinese journal of pediatrics 2014 PMID: 25190157
Mutational analysis of 105 mucopolysaccharidosis type VI patients. Karageorgos L Human mutation 2007 PMID: 17458871
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy. Karageorgos L Molecular genetics and metabolism 2007 PMID: 17161971
Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients. Petry MF Journal of inherited metabolic disease 2005 PMID: 16435196

Text-mined citations for rs397514441...

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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