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NM_000046.5(ARSB):c.995T>G (p.Val332Gly)

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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:
VCV000559833.1
Variation ID:
559833
Description:
single nucleotide variant
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NM_000046.5(ARSB):c.995T>G (p.Val332Gly)

Allele ID
550446
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.1
Genomic location
5: 78885731 (GRCh38) GRCh38 UCSC
5: 78181554 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.78885731A>C
NC_000005.9:g.78181554A>C
NG_007089.1:g.105804T>G
... more HGVS
Protein change
V332G
Other names
-
Canonical SPDI
NC_000005.10:78885730:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1554079312
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 RCV000677618.1
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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: SCV000803137.1
Submitted: (Apr 17, 2018)
Evidence details
Publications
PubMed (2)
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
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase. Brands MM Orphanet journal of rare diseases 2013 PMID: 23557332

Text-mined citations for rs1554079312...

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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