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NM_000487.6(ARSA):c.852T>A (p.Asn284Lys)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 3, 2017)
Last evaluated:
May 1, 2017
Accession:
VCV000431089.1
Variation ID:
431089
Description:
single nucleotide variant
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NM_000487.6(ARSA):c.852T>A (p.Asn284Lys)

Allele ID
424608
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50626593 (GRCh38) GRCh38 UCSC
22: 51065021 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.51065021A>T
NC_000022.11:g.50626593A>T
NG_009260.2:g.6587T>A
... more HGVS
Protein change
N284K, N198K
Other names
-
Canonical SPDI
NC_000022.11:50626592:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA412175586
dbSNP: rs1135401756
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 May 1, 2017 RCV000496194.1
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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
(May 01, 2017)
criteria provided, single submitter
Method: research
Metachromatic leukodystrophy
Allele origin: unknown
Neurometabolisches Labor,University hospital Tuebingen
Accession: SCV000586690.1
Submitted: (Aug 03, 2017)
Evidence details
Publications
PubMed (1)

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
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells. Böhringer J Human mutation 2017 PMID: 28762252

Text-mined citations for rs1135401756...

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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