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NM_000487.6(ARSA):c.449C>G (p.Pro150Arg)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 20, 2020
Accession:
VCV000576385.4
Variation ID:
576385
Description:
single nucleotide variant
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NM_000487.6(ARSA):c.449C>G (p.Pro150Arg)

Allele ID
573433
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50627182 (GRCh38) GRCh38 UCSC
22: 51065610 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.51065610G>C
NC_000022.11:g.50627182G>C
NG_009260.2:g.5998C>G
... more HGVS
Protein change
P150R, P64R
Other names
-
Canonical SPDI
NC_000022.11:50627181:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
-
Links
dbSNP: rs199476375
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 Jan 20, 2020 RCV000698866.4
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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
(Jan 20, 2020)
criteria provided, single submitter
Method: clinical testing
Metachromatic leukodystrophy
Allele origin: germline
Invitae
Accession: SCV000827555.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change replaces proline with arginine at codon 150 of the ARSA protein (p.Pro150Arg). The proline 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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Title Author Journal Year Link
A closer look at ARSA activity in a patient with metachromatic leukodystrophy. Doherty K Molecular genetics and metabolism reports 2019 PMID: 30828547
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
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. Cesani M Human mutation 2016 PMID: 26462614
Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy. Biffi A Science (New York, N.Y.) 2013 PMID: 23845948
Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation. Biffi A Clinical genetics 2008 PMID: 18786133
Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease. Qu Y Molecular genetics and metabolism 1999 PMID: 10381328

Text-mined citations for rs199476375...

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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 Oct 08, 2021