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NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Feb 1, 2019)
Last evaluated:
Sep 1, 2017
Accession:
VCV000003081.2
Variation ID:
3081
Description:
single nucleotide variant
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NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp)

Allele ID
18120
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50625675 (GRCh38) GRCh38 UCSC
22: 51064103 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.51064103G>A
NC_000022.11:g.50625675G>A
NM_001085428.3:c.856C>T NP_001078897.1:p.Arg286Trp missense
... more HGVS
Protein change
R370W
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA115991
OMIM: 607574.0033
dbSNP: rs74315476
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Sep 1, 2017 RCV000078933.7
Pathogenic 1 criteria provided, single submitter Jun 3, 2013 RCV000723522.1
Pathogenic 1 no assertion criteria provided Nov 7, 2018 RCV000003227.4
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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
344 450

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 12, 2016)
criteria provided, single submitter
Method: clinical testing
Metachromatic leukodystrophy
Allele origin: unknown
Counsyl
Accession: SCV000486167.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (5)
Pathogenic
(Jun 03, 2013)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000110793.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...
Pathogenic
(Sep 01, 2017)
criteria provided, single submitter
Method: clinical testing
Metachromatic leukodystrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000915982.1
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (4)
Comment:
The ARSA c.1114C>T (p.Arg372Trp) missense variant has been reported in at least four studies and is found in four children with arylsulfatase A deficiency, or ... (more)
Pathogenic
(Nov 07, 2018)
no assertion criteria provided
Method: literature only
METACHROMATIC LEUKODYSTROPHY, SEVERE
Allele origin: germline
OMIM
Accession: SCV000023385.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation. Biffi A Clinical genetics 2008 PMID: 18786133
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
Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy. Bertelli M Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2006 PMID: 16678723
The functional consequences of mis-sense mutations affecting an intra-molecular salt bridge in arylsulphatase A. Schestag F The Biochemical journal 2002 PMID: 12086582
Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. Heinisch U American journal of human genetics 1995 PMID: 7825603
An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy. Gieselmann V Human genetics 1991 PMID: 1671769
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ARSA - - - -

Record last updated Oct 27, 2019