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NM_000487.6(ARSA):c.442G>A (p.Gly148Ser)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 12, 2019
Accession:
VCV000857311.2
Variation ID:
857311
Description:
single nucleotide variant
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NM_000487.6(ARSA):c.442G>A (p.Gly148Ser)

Allele ID
849466
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50627189 (GRCh38) GRCh38 UCSC
22: 51065617 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.51065617C>T
NC_000022.11:g.50627189C>T
NG_009260.2:g.5991G>A
... more HGVS
Protein change
G148S, G62S
Other names
-
Canonical SPDI
NC_000022.11:50627188:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Feb 12, 2019 RCV001062955.1
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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
Likely pathogenic
(Feb 12, 2019)
criteria provided, single submitter
Method: clinical testing
Metachromatic leukodystrophy
Allele origin: germline
Invitae
Accession: SCV001227781.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glycine with serine at codon 148 of the ARSA protein (p.Gly148Ser). The glycine residue is highly conserved and there is a … (more)

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 08, 2021