Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000487.6(ARSA):c.979G>A (p.Gly327Ser)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 4, 2020
Accession:
VCV000372303.4
Variation ID:
372303
Description:
single nucleotide variant
Help

NM_000487.6(ARSA):c.979G>A (p.Gly327Ser)

Allele ID
360618
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50626154 (GRCh38) GRCh38 UCSC
22: 51064582 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.51064582C>T
NC_000022.11:g.50626154C>T
NG_009260.2:g.7026G>A
... more HGVS
Protein change
G327S, G241S
Other names
-
Canonical SPDI
NC_000022.11:50626153:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00001
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA10324863
dbSNP: rs148092995
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Apr 18, 2016 RCV000414752.1
Pathogenic 2 criteria provided, single submitter Jun 4, 2020 RCV000984246.2
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Apr 18, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000490407.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The G327S variant in the ARSA gene has been previously reported in association with juvenile-onset MLD in two families where affected individuals were also heterozygous … (more)
Pathogenic
(Jun 04, 2020)
criteria provided, single submitter
Method: clinical testing
Metachromatic leukodystrophy
Allele origin: germline
Invitae
Accession: SCV001588978.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change replaces glycine with serine at codon 327 of the ARSA protein (p.Gly327Ser). The glycine residue is highly conserved and there is a … (more)
Likely pathogenic
(Apr 11, 2019)
no assertion criteria provided
Method: clinical testing
Metachromatic leukodystrophy
Allele origin: unknown
Counsyl
Accession: SCV001132339.1
Submitted: (Aug 05, 2019)
Evidence details
Publications
PubMed (4)

Functional evidence

Help
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

Help
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
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. Cesani M Human mutation 2016 PMID: 26462614
Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy. Virgens MY Gene 2015 PMID: 25965562
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
Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD). Eng B Human mutation 2003 PMID: 14517960
Statistical features of human exons and their flanking regions. Zhang MQ Human molecular genetics 1998 PMID: 9536098

Text-mined citations for rs148092995...

Help
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