ARSA, IVS5DS, G-T, -1, GLY325CYS AND Arylsulfatase A pseudodeficiency

Clinical significance:Pathogenic (Last evaluated: Nov 7, 2018)

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:
RCV000003225.5

Allele description [Variation Report for ARSA, IVS5DS, G-T, -1, GLY325CYS]

ARSA, IVS5DS, G-T, -1, GLY325CYS

Gene:
ARSA:arylsulfatase A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.31-qter
Preferred name:
ARSA, IVS5DS, G-T, -1, GLY325CYS
Other names:
ARSA, IVS5DS, G-T, -1, GLY325CYS; G325C
HGVS:
    Protein change:
    GLY325CYS
    Links:
    OMIM: 607574.0031

    Condition(s)

    Name:
    Arylsulfatase A pseudodeficiency
    Identifiers:
    MedGen: C4017091

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000023383OMIMno assertion criteria providedPathogenic
    (Nov 7, 2018)
    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

    Details of each submission

    From OMIM, SCV000023383.3

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

    Description

    In Indian patients with arylsulfatase A pseudodeficiency (250100), Gieselmann et al. (1994) reported a G-to-T substitution of the last nucleotide of ARSA exon 5, changing a glycine to cysteine at position 325 and concomitantly resulting in aberrant splicing of arylsulfatase A mRNA.

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

    Last Updated: Sep 29, 2021

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