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NM_000046.5(ARSB):c.375dup (p.Glu126Ter)

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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:
VCV000559775.1
Variation ID:
559775
Description:
1bp duplication
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NM_000046.5(ARSB):c.375dup (p.Glu126Ter)

Allele ID
550504
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
5q14.1
Genomic location
5: 78969129-78969130 (GRCh38) GRCh38 UCSC
5: 78264952-78264953 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.78969130dup
NC_000005.9:g.78264953dup
NG_007089.1:g.22405dup
... more HGVS
Protein change
E126*
Other names
-
Canonical SPDI
NC_000005.10:78969129:A:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1554088081
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 RCV000677553.1
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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
565 578

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: SCV000803066.1
Submitted: (Apr 17, 2018)
Comment:
Incorrectly reported by Jurecka (2012) Mol Genet Metab 105, 237as c.375_376insT
Evidence details
Publications
PubMed (2)
Comment:
Frameshift variant(PVS1); Absent from GnomAD (PM2)

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
Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia. Jurecka A Molecular genetics and metabolism 2012 PMID: 22133300

Text-mined citations for rs1554088081...

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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 Oct 08, 2021