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NM_000046.5(ARSB):c.1079T>C (p.Leu360Pro)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 17, 2018)
Last evaluated:
Jan 1, 2018
Accession:
VCV000559672.1
Variation ID:
559672
Description:
single nucleotide variant
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NM_000046.5(ARSB):c.1079T>C (p.Leu360Pro)

Allele ID
550437
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.1
Genomic location
5: 78885647 (GRCh38) GRCh38 UCSC
5: 78181470 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.78885647A>G
NC_000005.9:g.78181470A>G
NG_007089.1:g.105888T>C
... more HGVS
Protein change
L360P
Other names
-
Canonical SPDI
NC_000005.10:78885646:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1554079284
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jan 1, 2018 RCV000677446.1
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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: SCV000802949.1
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)

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
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
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe. Jurecka A Pediatrics international : official journal of the Japan Pediatric Society 2014 PMID: 24373060
Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene. Zanetti A JIMD reports 2014 PMID: 24243352
[Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients]. Voskoboeva EIu Genetika 2000 PMID: 10923267

Text-mined citations for rs1554079284...

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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