NM_000487.6(ARSA):c.1274A>G (p.His425Arg) AND Metachromatic leukodystrophy

Clinical significance:Pathogenic (Last evaluated: May 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000496135.1

Allele description [Variation Report for NM_000487.6(ARSA):c.1274A>G (p.His425Arg)]

NM_000487.6(ARSA):c.1274A>G (p.His425Arg)

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.1274A>G (p.His425Arg)
HGVS:
  • NC_000022.11:g.50625401T>C
  • NG_009260.2:g.7779A>G
  • NM_000487.6:c.1274A>GMANE SELECT
  • NM_001085425.3:c.1274A>G
  • NM_001085426.3:c.1274A>G
  • NM_001085427.3:c.1274A>G
  • NM_001085428.3:c.1016A>G
  • NM_001362782.2:c.1016A>G
  • NP_000478.3:p.His425Arg
  • NP_001078894.2:p.His425Arg
  • NP_001078895.2:p.His425Arg
  • NP_001078896.2:p.His425Arg
  • NP_001078897.1:p.His339Arg
  • NP_001349711.1:p.His339Arg
  • NC_000022.10:g.51063829T>C
  • NM_000487.5:c.1274A>G
Protein change:
H339R
Links:
dbSNP: rs1135401757
NCBI 1000 Genomes Browser:
rs1135401757
Molecular consequence:
  • NM_000487.6:c.1274A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085425.3:c.1274A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085426.3:c.1274A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085427.3:c.1274A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085428.3:c.1016A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362782.2:c.1016A>G - 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
SCV000586691Neurometabolisches Labor,University hospital Tuebingencriteria provided, single submitter
Pathogenic
(May 1, 2017)
unknownresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.

Böhringer J, Santer R, Schumacher N, Gieseke F, Cornils K, Pechan M, Kustermann-Kuhn B, Handgretinger R, Schöls L, Harzer K, Krägeloh-Mann I, Müller I.

Hum Mutat. 2017 Nov;38(11):1511-1520. doi: 10.1002/humu.23306. Epub 2017 Sep 6.

PubMed [citation]
PMID:
28762252

Details of each submission

From Neurometabolisches Labor,University hospital Tuebingen, SCV000586691.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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