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NM_000046.5(ARSB):c.436T>C (p.Trp146Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 17, 2018)
Last evaluated:
Jan 1, 2018
Accession:
VCV000559784.1
Variation ID:
559784
Description:
single nucleotide variant
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NM_000046.5(ARSB):c.436T>C (p.Trp146Arg)

Allele ID
550495
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.1
Genomic location
5: 78969069 (GRCh38) GRCh38 UCSC
5: 78264892 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.78969069A>G
NC_000005.9:g.78264892A>G
NM_000046.5:c.436T>C NP_000037.2:p.Trp146Arg missense
... more HGVS
Protein change
W146R
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1554088037
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 1, 2018 RCV000677563.1
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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
350 360

Submitted interpretations and evidence

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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 VI
Allele origin: germline
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova
Accession: SCV000803076.1
Submitted: (Apr 17, 2018)
Evidence details
Publications
PubMed (2)
Comment:
Absent from GnomAD (PM2)

Citations for this variant

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
N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI. Simonaro CM Biochimica et biophysica acta 1995 PMID: 8541342

Record last updated Aug 25, 2019