ARSA, 1-BP DEL, 297C AND Metachromatic leukodystrophy

Clinical significance:Pathogenic (Last evaluated: Aug 1, 1993)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000003211.3

Allele description [Variation Report for ARSA, 1-BP DEL, 297C]

ARSA, 1-BP DEL, 297C

Gene:
ARSA:arylsulfatase A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q13.31-qter
Preferred name:
ARSA, 1-BP DEL, 297C
HGVS:
    Nucleotide change:
    1-BP DEL, 297C
    Links:
    OMIM: 607574.0017

    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
    SCV000023369OMIMno assertion criteria providedPathogenic
    (Aug 1, 1993)
    germlineliterature only

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

    Summary from all submissions

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

    Citations

    PubMed

    High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy.

    Kreysing J, Bohne W, Bösenberg C, Marchesini S, Turpin JC, Baumann N, von Figura K, Gieselmann V.

    Am J Hum Genet. 1993 Aug;53(2):339-46.

    PubMed [citation]
    PMID:
    8101038
    PMCID:
    PMC1682342

    Details of each submission

    From OMIM, SCV000023369.2

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

    Description

    In Caucasian patients with metachromatic leukodystrophy (250100), Kreysing et al. (1993) identified a 1-bp (C) deletion at position 297 of the coding sequence in exon 2 of the ARSA gene.

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

    Last Updated: Oct 7, 2021

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