NM_000487.6(ARSA):c.884G>A (p.Gly295Asp) AND Metachromatic leukodystrophy

Clinical significance:Uncertain significance (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001150625.1

Allele description [Variation Report for NM_000487.6(ARSA):c.884G>A (p.Gly295Asp)]

NM_000487.6(ARSA):c.884G>A (p.Gly295Asp)

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.884G>A (p.Gly295Asp)
HGVS:
  • NC_000022.11:g.50626249C>T
  • NG_009260.2:g.6931G>A
  • NM_000487.6:c.884G>AMANE SELECT
  • NM_001085425.3:c.884G>A
  • NM_001085426.3:c.884G>A
  • NM_001085427.3:c.884G>A
  • NM_001085428.3:c.626G>A
  • NM_001362782.2:c.626G>A
  • NP_000478.3:p.Gly295Asp
  • NP_001078894.2:p.Gly295Asp
  • NP_001078895.2:p.Gly295Asp
  • NP_001078896.2:p.Gly295Asp
  • NP_001078897.1:p.Gly209Asp
  • NP_001349711.1:p.Gly209Asp
  • NC_000022.10:g.51064677C>T
  • NM_000487.5:c.884G>A
Protein change:
G209D
Links:
UniProtKB/Swiss-Prot: VAR_054193; dbSNP: rs199476387
NCBI 1000 Genomes Browser:
rs199476387
Molecular consequence:
  • NM_000487.6:c.884G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085425.3:c.884G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085426.3:c.884G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085427.3:c.884G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085428.3:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362782.2:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Metachromatic leukodystrophy (MLD)
Synonyms:
Metachromatic leukoencephalopathy; Sulfatide lipidosis; Cerebral sclerosis diffuse metachromatic form; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018868; MedGen: C0023522; Orphanet: 512; OMIM: 250100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001311708Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene.

Gallo S, Randi D, Bertelli M, Salviati A, Pandolfo M.

J Neurol Neurosurg Psychiatry. 2004 Apr;75(4):655-7.

PubMed [citation]
PMID:
15026521
PMCID:
PMC1739033

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001311708.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Oct 7, 2021

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