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NM_000487.6(ARSA):c.636C>T (p.Ala212=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jul 4, 2021)
Last evaluated:
Jul 1, 2021
Accession:
VCV000093126.7
Variation ID:
93126
Description:
single nucleotide variant
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NM_000487.6(ARSA):c.636C>T (p.Ala212=)

Allele ID
99033
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50626882 (GRCh38) GRCh38 UCSC
22: 51065310 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.51065310G>A
NC_000022.11:g.50626882G>A
NG_009260.2:g.6298C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000022.11:50626881:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00021
Exome Aggregation Consortium (ExAC) 0.00083
The Genome Aggregation Database (gnomAD) 0.00022
The Genome Aggregation Database (gnomAD), exomes 0.00073
Trans-Omics for Precision Medicine (TOPMed) 0.00015
1000 Genomes Project 0.00040
Trans-Omics for Precision Medicine (TOPMed) 0.00022
Links
ClinGen: CA146677
dbSNP: rs200182983
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Nov 26, 2012 RCV000078950.6
Benign 1 criteria provided, single submitter Dec 2, 2020 RCV000871089.3
Likely benign 1 criteria provided, single submitter Jul 1, 2021 RCV001310817.2
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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
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000304462.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Nov 26, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000110811.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
Metachromatic leukodystrophy
Allele origin: germline
Invitae
Accession: SCV001012690.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jul 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001500764.3
Submitted: (Jul 04, 2021)
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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ARSA - - - -

Text-mined citations for rs200182983...

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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