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NM_000487.6(ARSA):c.884G>A (p.Gly295Asp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Feb 20, 2020)
Last evaluated:
Apr 27, 2017
Accession:
VCV000068155.2
Variation ID:
68155
Description:
single nucleotide variant
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NM_000487.6(ARSA):c.884G>A (p.Gly295Asp)

Allele ID
79046
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50626249 (GRCh38) GRCh38 UCSC
22: 51064677 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.51064677C>T
NC_000022.11:g.50626249C>T
NG_009260.2:g.6931G>A
... more HGVS
Protein change
G295D, G209D
Other names
-
Canonical SPDI
NC_000022.11:50626248:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA219066
UniProtKB/Swiss-Prot: VAR_054193
dbSNP: rs199476387
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 Apr 27, 2017 RCV001150625.1
not provided 1 no assertion provided - RCV000058986.1
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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
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Metachromatic leukodystrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001311708.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
UniProtKB/Swiss-Prot
Accession: SCV000090507.1
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
Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene. Gallo S Journal of neurology, neurosurgery, and psychiatry 2004 PMID: 15026521

Text-mined citations for rs199476387...

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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