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NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Jan 15, 2020)
Last evaluated:
Nov 12, 2019
Accession:
VCV000003087.3
Variation ID:
3087
Description:
single nucleotide variant
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NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile)

Allele ID
18126
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50625443 (GRCh38) GRCh38 UCSC
22: 51063871 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.51063871G>A
NC_000022.11:g.50625443G>A
NG_009260.2:g.7737C>T
... more HGVS
Protein change
T411I, T325I
Other names
T409I
Canonical SPDI
NC_000022.11:50625442:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA115999
OMIM: 607574.0039
dbSNP: rs74315481
VarSome
Comment on variant
NCBI staff reviewed the sequence information reported in PubMed 7909527 to determine the location of this allele on current reference sequence.
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Nov 12, 2019 RCV000020313.3
Pathogenic 1 no assertion criteria provided Apr 1, 1994 RCV000003233.3
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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
Likely pathogenic
(Nov 12, 2019)
criteria provided, single submitter
Method: clinical testing
Metachromatic leukodystrophy
Allele origin: unknown
Myriad Women's Health, Inc.
Accession: SCV001193858.1
Submitted: (Jan 15, 2020)
Evidence details
Publications
PubMed (6)
Comment:
NM_000487.5(ARSA):c.1232C>T(T411I) is classified as likely pathogenic in the context of metachromatic leukodystrophy. Sources cited for classification include the following: PMID 18832844, 22798296, 21265945, 19154224, 10459747 … (more)
pathologic
(Aug 25, 2011)
no assertion criteria provided
Method: curation
Arylsulfatase A Deficiency
Allele origin: not provided
GeneReviews
Accession: SCV000040688.1
Submitted: (Jan 08, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.
Pathogenic
(Apr 01, 1994)
no assertion criteria provided
Method: literature only
METACHROMATIC LEUKODYSTROPHY, MILD
Allele origin: germline
OMIM
Accession: SCV000023391.2
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
Arylsulfatase A Deficiency Gomez-Ospina N - 2020 PMID: 20301309
Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic comparison with a previously reported case. Hayashi T Psychiatry and clinical neurosciences 2011 PMID: 21265945
Diffusion and ADC-map images detect ongoing demyelination on subcortical white matter in an adult metachromatic leukodystrophy patient with autoimmune Hashimoto thyroiditis. Miura A BMJ case reports 2010 PMID: 22798296
A case of adult onset metachromatic leukodystrophy. Ito K Psychiatry and clinical neurosciences 2009 PMID: 19154224
A novel mutation in the arylsulfatase A gene associated with adult-onset metachromatic leukodystrophy without clinical evidence of neuropathy. Suzuki C European neurology 2008 PMID: 18832844
Adult-type metachromatic leukodystrophy with a compound heterozygote mutation showing character change and dementia. Fukutani Y Psychiatry and clinical neurosciences 1999 PMID: 10459747
Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing. Hasegawa Y Human genetics 1994 PMID: 7909527

Text-mined citations for rs74315481...

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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