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NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
May 27, 2019
Accession:
VCV000093121.3
Variation ID:
93121
Description:
1bp deletion
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NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer)

Allele ID
99028
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50627585 (GRCh38) GRCh38 UCSC
22: 51066013 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.51066013del
NC_000022.11:g.50627585del
NG_009260.2:g.5595del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000022.11:50627584:G:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA278422
dbSNP: rs398123414
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 3 criteria provided, multiple submitters, no conflicts May 27, 2019 RCV000078942.7
Pathogenic 1 criteria provided, single submitter Jul 10, 2012 RCV000723526.1
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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
Pathogenic
(Jul 10, 2012)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000110803.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(May 01, 2017)
criteria provided, single submitter
Method: research
Metachromatic leukodystrophy
Allele origin: unknown
Neurometabolisches Labor,University hospital Tuebingen
Accession: SCV000586685.1
Submitted: (Aug 03, 2017)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Dec 23, 2016)
criteria provided, single submitter
Method: clinical testing
Metachromatic leukodystrophy
Allele origin: unknown
Counsyl
Accession: SCV000788912.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Pathogenic
(May 27, 2019)
criteria provided, single submitter
Method: clinical testing
Metachromatic leukodystrophy
Allele origin: germline
Invitae
Accession: SCV001203142.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change creates a premature translational stop signal (p.Tyr65*) in the ARSA gene. It is expected to result in an absent or disrupted 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
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells. Böhringer J Human mutation 2017 PMID: 28762252
Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy. Luzi P Gene 2013 PMID: 24001781
Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients. Gort L Human mutation 1999 PMID: 10477432
Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy. Hess B Proceedings of the National Academy of Sciences of the United States of America 1996 PMID: 8962139
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ARSA - - - -

Text-mined citations for rs398123414...

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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