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NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(2); Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4
First in ClinVar:
Mar 8, 2017
Most recent Submission:
May 16, 2022
Last evaluated:
Aug 26, 2021
Accession:
VCV000379809.8
Variation ID:
379809
Description:
single nucleotide variant
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NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)

Allele ID
368534
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.1
Genomic location
5: 78781863 (GRCh38) GRCh38 UCSC
5: 78077686 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000046.5:c.1325C>T MANE Select NP_000037.2:p.Thr442Met missense
NC_000005.10:g.78781863G>A
NC_000005.9:g.78077686G>A
NG_007089.1:g.209672C>T
Protein change
T442M
Other names
-
Canonical SPDI
NC_000005.10:78781862:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16604916
dbSNP: rs1057520739
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Feb 21, 2017 RCV000435336.5
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Aug 26, 2021 RCV000632186.5
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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
671 686

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Jan 01, 2018)
criteria provided, single submitter
Method: curation
Mucopolysaccharidosis type 6
Affected status: yes
Allele origin: germline
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova
Accession: SCV000802983.1
First in ClinVar: May 28, 2018
Last updated: May 28, 2018
Publications:
PubMed (3)
PubMed: 301181501745887125190157
Comment:
Absent from GnomAD (PM2)
Uncertain significance
(Feb 21, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Eurofins NTD LLC (GA)
Accession: SCV000706443.2
First in ClinVar: Apr 02, 2018
Last updated: Dec 15, 2018
Other databases
http://www.egl-eurofins.com/emvc… http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ARSB
Number of individuals with the variant: 1
Zygosity: 1 Single Heterozygote
Sex: mixed
Pathogenic
(May 27, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV000517249.4
First in ClinVar: Mar 08, 2017
Last updated: Dec 15, 2018
Comment:
The T442M variant in the ARSB gene has been reported previously in the compound heterozygous statein an individual with mucopolysaccharidosis type VI (MPS VI) (Karageorgos … (more)
Pathogenic
(Aug 26, 2021)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis type 6
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000753291.3
First in ClinVar: May 28, 2018
Last updated: May 16, 2022
Publications:
PubMed (1)
PubMed: 28492532

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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
[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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ARSB - - - -

Text-mined citations for rs1057520739...

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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 Aug 24, 2022