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NM_000487.6(ARSA):c.582dup (p.Trp195fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 8, 2020)
Last evaluated:
Jun 24, 2020
Accession:
VCV000973783.1
Variation ID:
973783
Description:
1bp duplication
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NM_000487.6(ARSA):c.582dup (p.Trp195fs)

Allele ID
962082
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50626935-50626936 (GRCh38) GRCh38 UCSC
22: 51065363-51065364 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.51065369dup
NC_000022.11:g.50626941dup
NG_009260.2:g.6244dup
... more HGVS
Protein change
W109fs, W195fs
Other names
-
Canonical SPDI
NC_000022.11:50626935:GGGGGG:GGGGGGG
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 Jun 24, 2020 RCV001250456.1
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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
Pathogenic
(Jun 24, 2020)
criteria provided, single submitter
Method: clinical testing
Metachromatic leukodystrophy
Allele origin: inherited
Amsterdam Leukodystrophy Center,Amsterdam UMC
Accession: SCV001424849.1
Submitted: (Jul 08, 2020)
Evidence details
Publications
PubMed (1)
Comment:
Heterozygous - novel

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
Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients. Beerepoot S Neurogenetics 2020 PMID: 32632536

Record last updated Oct 08, 2021