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NM_000487.6(ARSA):c.1408_1418del (p.Ala470fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Sep 19, 2018)
Last evaluated:
Jun 13, 2014
Accession:
VCV000198735.2
Variation ID:
198735
Description:
11bp deletion
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NM_000487.6(ARSA):c.1408_1418del (p.Ala470fs)

Allele ID
190193
Variant type
Deletion
Variant length
11 bp
Cytogenetic location
22q13.33
Genomic location
22: 50625257-50625267 (GRCh38) GRCh38 UCSC
22: 51063685-51063695 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.51063688_51063698del
NC_000022.11:g.50625260_50625270del
NG_009260.2:g.7913_7923del
... more HGVS
Protein change
A384fs, A470fs
Other names
-
Canonical SPDI
NC_000022.11:50625256:GTCACAGCTGCGTC:GTC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA278517
dbSNP: rs80338823
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jun 13, 2014 RCV000723834.1
Pathogenic 1 no assertion criteria provided Aug 25, 2011 RCV000180166.4
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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
Pathogenic
(Jun 13, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000232556.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
pathologic
(Aug 25, 2011)
no assertion criteria provided
Method: curation
Arylsulfatase A Deficiency
Allele origin: not provided
GeneReviews
Accession: SCV000040690.1
Submitted: (Jan 08, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.

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
Arylsulfatase A Deficiency Gomez-Ospina N - 2020 PMID: 20301309
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ARSA - - - -

Text-mined citations for rs80338823...

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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 Sep 29, 2021