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NM_000487.6(ARSA):c.506C>G (p.Pro169Arg)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Jan 1, 1994
Accession:
VCV000003068.1
Variation ID:
3068
Description:
single nucleotide variant
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NM_000487.6(ARSA):c.506C>G (p.Pro169Arg)

Allele ID
18107
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50627012 (GRCh38) GRCh38 UCSC
22: 51065440 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000487.6:c.506C>G MANE Select NP_000478.3:p.Pro169Arg missense
NM_001085425.3:c.506C>G NP_001078894.2:p.Pro169Arg missense
NM_001085426.3:c.506C>G NP_001078895.2:p.Pro169Arg missense
... more HGVS
Protein change
P169R, P83R
Other names
ARSA, PRO167ARG
Canonical SPDI
NC_000022.11:50627011:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA278028
OMIM: 607574.0020
dbSNP: rs74315465
VarSome
Comment on variant
NCBI staff reviewed the sequence information reported in PubMed 7981715 to determine the location of this allele on current reference sequence (P169R).
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Jan 1, 1994 RCV000003214.3
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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
Pathogenic
(Jan 01, 1994)
no assertion criteria provided
Method: literature only
METACHROMATIC LEUKODYSTROPHY
Allele origin: germline
OMIM
Accession: SCV000023372.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
Complex arylsulfatase A alleles causing metachromatic leukodystrophy. Kappler J Human mutation 1994 PMID: 7981715

Text-mined citations for rs74315465...

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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