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NM_000487.6(ARSA):c.433C>T (p.Arg145Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 9, 2019
Accession:
VCV000840281.2
Variation ID:
840281
Description:
single nucleotide variant
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NM_000487.6(ARSA):c.433C>T (p.Arg145Ter)

Allele ID
849467
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50627198 (GRCh38) GRCh38 UCSC
22: 51065626 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.51065626G>A
NC_000022.11:g.50627198G>A
NG_009260.2:g.5982C>T
... more HGVS
Protein change
R59*, R145*
Other names
-
Canonical SPDI
NC_000022.11:50627197:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Aug 9, 2019 RCV001042235.2
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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
Pathogenic
(Aug 09, 2019)
criteria provided, single submitter
Method: clinical testing
Metachromatic leukodystrophy
Allele origin: germline
Invitae
Accession: SCV001205907.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Arg145*) in the ARSA gene. It is expected to result in an absent or disrupted protein … (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
Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients. Gort L Human mutation 1999 PMID: 10477432
Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy. Hess B Proceedings of the National Academy of Sciences of the United States of America 1996 PMID: 8962139

Record last updated Oct 08, 2021