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NM_000487.6(ARSA):c.929G>A (p.Gly310Asp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Dec 28, 2020)
Last evaluated:
Apr 3, 2018
Accession:
VCV000068163.2
Variation ID:
68163
Description:
single nucleotide variant
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NM_000487.6(ARSA):c.929G>A (p.Gly310Asp)

Allele ID
79054
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50626204 (GRCh38) GRCh38 UCSC
22: 51064632 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.51064632C>T
NC_000022.11:g.50626204C>T
NG_009260.2:g.6976G>A
... more HGVS
Protein change
G310D, G224D
Other names
-
Canonical SPDI
NC_000022.11:50626203:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA219082
UniProtKB/Swiss-Prot: VAR_054199
dbSNP: rs199476356
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Apr 3, 2018 RCV000695949.2
not provided 1 no assertion provided - RCV000058995.1
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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
593 729

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 03, 2018)
criteria provided, single submitter
Method: clinical testing
Metachromatic leukodystrophy
Allele origin: germline
Invitae
Accession: SCV000824490.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces glycine with aspartic acid at codon 310 of the ARSA protein (p.Gly310Asp). The glycine residue is highly conserved and there is … (more)
Uncertain significance
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Metachromatic leukodystrophy
Allele origin: germline
Natera, Inc.
Accession: SCV001462383.1
Submitted: (Dec 28, 2020)
Evidence details
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
UniProtKB/Swiss-Prot
Accession: SCV000090516.1
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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients. Gort L Human mutation 1999 PMID: 10477432
Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy. Tsuda T Brain & development 1996 PMID: 8891236

Text-mined citations for rs199476356...

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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