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NM_000487.6(ARSA):c.1489_1492dup (p.Arg498fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Oct 15, 2019)
Last evaluated:
Sep 20, 2018
Accession:
VCV000188843.2
Variation ID:
188843
Description:
4bp duplication
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NM_000487.6(ARSA):c.1489_1492dup (p.Arg498fs)

Allele ID
187069
Variant type
Duplication
Variant length
4 bp
Cytogenetic location
22q13.33
Genomic location
22: 50625182-50625183 (GRCh38) GRCh38 UCSC
22: 51063610-51063611 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.51063613_51063616dup
NC_000022.11:g.50625185_50625188dup
NG_009260.2:g.7994_7997dup
... more HGVS
Protein change
R498fs, R412fs
Other names
-
Canonical SPDI
NC_000022.11:50625182:GGGGGG:GGGGGGGGGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA278472
dbSNP: rs774153480
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 Jun 20, 2014 RCV000169193.1
Pathogenic 1 criteria provided, single submitter Sep 20, 2018 RCV001008371.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ARSA - - GRCh38
GRCh37
586 722

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 20, 2014)
criteria provided, single submitter
Method: literature only
Metachromatic leukodystrophy
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000220440.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (1)
Pathogenic
(Sep 20, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001168139.1
Submitted: (Oct 15, 2019)
Evidence details
Comment:
The c.1489_1492dupCCCC pathogenic variant in the ARSA gene has been reported previously in association with MLD in an individual who was also compound heterozygous for … (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
Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele. Coulter-Mackie MB Molecular genetics and metabolism 2003 PMID: 12809638

Text-mined citations for rs774153480...

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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