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NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) AND Metachromatic leukodystrophy, severe

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 7, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000003226.7

Allele description [Variation Report for NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)]

NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)

Gene:
ARSA:arylsulfatase A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)
Other names:
D335V
HGVS:
  • NC_000022.11:g.50626033T>A
  • NG_009260.2:g.7147A>T
  • NM_000487.6:c.1010A>TMANE SELECT
  • NM_001085425.3:c.1010A>T
  • NM_001085426.3:c.1010A>T
  • NM_001085427.3:c.1010A>T
  • NM_001085428.3:c.752A>T
  • NM_001362782.2:c.752A>T
  • NP_000478.3:p.Asp337Val
  • NP_001078894.2:p.Asp337Val
  • NP_001078895.2:p.Asp337Val
  • NP_001078896.2:p.Asp337Val
  • NP_001078897.1:p.Asp251Val
  • NP_001349711.1:p.Asp251Val
  • NC_000022.10:g.51064461T>A
  • NM_000487.5:c.1010A>T
  • NM_001085426.2:c.1010A>T
Protein change:
D251V; ASP335VAL
Links:
OMIM: 607574.0032; dbSNP: rs74315475
NCBI 1000 Genomes Browser:
rs74315475
Molecular consequence:
  • NM_000487.6:c.1010A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085425.3:c.1010A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085426.3:c.1010A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085427.3:c.1010A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085428.3:c.752A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362782.2:c.752A>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
loss_of_function_variant [Sequence Ontology: SO:0002054] - Comment(s)

Condition(s)

Name:
Metachromatic leukodystrophy, severe
Identifiers:
MedGen: C4017094

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000023384OMIM
no assertion criteria provided
Pathogenic
(Nov 7, 2018) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Details of each submission

From OMIM, SCV000023384.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In Caucasian patients with severe metachromatic leukodystrophy (250100), Gieselmann et al. (1994) reported an A-to-T substitution of the ARSA gene changing an aspartic acid to valine at position 335 in exon 6.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 2, 2024