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NM_000487.6(ARSA):c.1107G>C (p.Lys369Asn)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
May 2, 2019
Accession:
VCV000068112.3
Variation ID:
68112
Description:
single nucleotide variant
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NM_000487.6(ARSA):c.1107G>C (p.Lys369Asn)

Allele ID
79003
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50625936 (GRCh38) GRCh38 UCSC
22: 51064364 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.51064364C>G
NC_000022.11:g.50625936C>G
NG_009260.2:g.7244G>C
... more HGVS
Protein change
K369N, K283N
Other names
-
Canonical SPDI
NC_000022.11:50625935:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA218980
UniProtKB/Swiss-Prot: VAR_007279
dbSNP: rs199476369
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter May 2, 2019 RCV001216197.2
not provided 1 no assertion provided - RCV000058942.1
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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
590 726

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 02, 2019)
criteria provided, single submitter
Method: clinical testing
Metachromatic leukodystrophy
Allele origin: germline
Invitae
Accession: SCV001387979.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces lysine with asparagine at codon 369 of the ARSA protein (p.Lys369Asn). The lysine residue is moderately conserved and there is a … (more)
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
UniProtKB/Swiss-Prot
Accession: SCV000090463.1
Submitted: (Apr 18, 2012)
Evidence details

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
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Buratti E Nucleic acids research 2007 PMID: 17576681
Statistical features of human exons and their flanking regions. Zhang MQ Human molecular genetics 1998 PMID: 9536098
Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene. Draghia R Human mutation 1997 PMID: 9090526

Text-mined citations for rs199476369...

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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 Nov 27, 2021