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NM_000487.6(ARSA):c.1087dup (p.Leu363fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 8, 2019
Accession:
VCV000858399.2
Variation ID:
858399
Description:
1bp duplication
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NM_000487.6(ARSA):c.1087dup (p.Leu363fs)

Allele ID
849462
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50625955-50625956 (GRCh38) GRCh38 UCSC
22: 51064383-51064384 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.51064388dup
NC_000022.11:g.50625960dup
NG_009260.2:g.7224dup
... more HGVS
Protein change
L277fs, L363fs
Other names
-
Canonical SPDI
NC_000022.11:50625955:GGGGG:GGGGGG
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 Feb 8, 2019 RCV001064269.2
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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
(Feb 08, 2019)
criteria provided, single submitter
Method: clinical testing
Metachromatic leukodystrophy
Allele origin: germline
Invitae
Accession: SCV001229158.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change results in a premature translational stop signal in the ARSA gene (p.Leu363Profs*47). While this is not anticipated to result in nonsense mediated … (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
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. Cesani M Human mutation 2016 PMID: 26462614
Molecular and clinical consequences of novel mutations in the arylsulfatase A gene. Ługowska A Clinical genetics 2009 PMID: 19021637
Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC. Mutations in brief no. 232. Online. Marcão A Human mutation 1999 PMID: 10220151
Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients. Barth ML Human molecular genetics 1993 PMID: 7906588

Record last updated Oct 08, 2021