Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000046.5(ARSB):c.960C>G (p.Ser320Arg)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 29, 2019)
Last evaluated:
Jan 1, 2018
Accession:
VCV000430162.2
Variation ID:
430162
Description:
single nucleotide variant
Help

NM_000046.5(ARSB):c.960C>G (p.Ser320Arg)

Allele ID
421553
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.1
Genomic location
5: 78885766 (GRCh38) GRCh38 UCSC
5: 78181589 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.78885766G>C
NC_000005.9:g.78181589G>C
NG_007089.1:g.105769C>G
... more HGVS
Protein change
S320R
Other names
-
Canonical SPDI
NC_000005.10:78885765:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA360343328
dbSNP: rs762614315
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jun 15, 2016 RCV000493516.1
Uncertain significance 1 criteria provided, single submitter Jan 1, 2018 RCV000677613.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ARSB - - GRCh38
GRCh37
563 576

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(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: SCV000803131.1
Submitted: (Apr 17, 2018)
Evidence details
Publications
PubMed (3)
Comment:
Absent from GnomAD (PM2); Multiple lines of computational evidence support a deleterious effect on the gene product (PP3)
Likely pathogenic
(Jun 15, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000582894.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The S320R variant has previously been reported in association with mucopolysaccharidosis VI (MPSVI) in an individual who was homozygous for S320R and another individual who … (more)

Functional evidence

Help
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

Help
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
Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. Uttarilli A The Indian journal of medical research 2015 PMID: 26609033
[Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients]. Voskoboeva EIu Genetika 2000 PMID: 10923267

Text-mined citations for rs762614315...

Help
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 Oct 08, 2021