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NM_000487.6(ARSA):c.925G>T (p.Glu309Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 6, 2020)
Last evaluated:
Nov 29, 2019
Accession:
VCV000928724.1
Variation ID:
928724
Description:
single nucleotide variant
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NM_000487.6(ARSA):c.925G>T (p.Glu309Ter)

Allele ID
917329
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50626208 (GRCh38) GRCh38 UCSC
22: 51064636 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.51064636C>A
NC_000022.11:g.50626208C>A
NM_000487.6:c.925G>T MANE Select NP_000478.3:p.Glu309Ter nonsense
... more HGVS
Protein change
E223*, E309*
Other names
-
Canonical SPDI
NC_000022.11:50626207:C:A
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 Nov 29, 2019 RCV001193048.1
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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
(Nov 29, 2019)
criteria provided, single submitter
Method: clinical testing
Metachromatic leukodystrophy
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001361597.1
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (2)
Comment:
Variant summary: ARSA c.925G>T (p.Glu309X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (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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Title Author Journal Year Link
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. Cesani M Human mutation 2016 PMID: 26462614
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles. Grossi S Human mutation 2008 PMID: 18693274

Record last updated Jun 14, 2021