ARSA, IVS4DS, G-A, +1 AND Metachromatic leukodystrophy, severe

Clinical significance:Pathogenic (Last evaluated: Jan 1, 1994)

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:
RCV000003222.3

Allele description [Variation Report for ARSA, IVS4DS, G-A, +1]

ARSA, IVS4DS, G-A, +1

Gene:
ARSA:arylsulfatase A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.31-qter
Preferred name:
ARSA, IVS4DS, G-A, +1
HGVS:
    Nucleotide change:
    IVS4DS, G-A, +1
    Links:
    OMIM: 607574.0028

    Condition(s)

    Name:
    Metachromatic leukodystrophy, severe
    Identifiers:
    MedGen: C4017094

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000023380OMIMno assertion criteria providedPathogenic
    (Jan 1, 1994)
    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

    Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene.

    Pastor-Soler NM, Rafi MA, Hoffman JD, Hu D, Wenger DA.

    Hum Mutat. 1994;4(3):199-207.

    PubMed [citation]
    PMID:
    7833949

    Details of each submission

    From OMIM, SCV000023380.2

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

    Description

    In Caucasian patients with severe metachromatic leukodystrophy (250100), Pastor-Soler et al. (1994) identified a G-to-A transition of the ARSA gene at nucleotide 848+1 (which is the first nucleotide of the donor splice site) of intron 4, resulting in abnormal splicing. This mutation causes instability of the arylsulfatase A mRNA and was found in all alleles of Navajo Indians patients with late infantile metachromatic leucodystrophy.

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

    Last Updated: Jun 17, 2019

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