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NM_000487.6(ARSA):c.160C>G (p.Leu54Val)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 27, 2020
Accession:
VCV001066235.1
Variation ID:
1066235
Description:
single nucleotide variant
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NM_000487.6(ARSA):c.160C>G (p.Leu54Val)

Allele ID
1056696
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50627620 (GRCh38) GRCh38 UCSC
22: 51066048 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.51066048G>C
NC_000022.11:g.50627620G>C
NG_009260.2:g.5560C>G
... more HGVS
Protein change
L54V
Other names
-
Canonical SPDI
NC_000022.11:50627619:G:C
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
Likely pathogenic 1 criteria provided, single submitter Aug 27, 2020 RCV001377180.1
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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
(Aug 27, 2020)
criteria provided, single submitter
Method: clinical testing
Metachromatic leukodystrophy
Allele origin: germline
Invitae
Accession: SCV001574439.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces leucine with valine at codon 54 of the ARSA protein (p.Leu54Val). The leucine residue is moderately conserved and there is a … (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
Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy. Cesani M Human mutation 2009 PMID: 19606494
Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy. Bertelli M Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2006 PMID: 16678723

Record last updated Oct 08, 2021