CLCN5, IVS8DS, G-T, +1 AND Dent disease 1

Clinical significance:Pathogenic (Last evaluated: Oct 1, 2009)

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:
RCV000012577.14

Allele description [Variation Report for CLCN5, IVS8DS, G-T, +1]

CLCN5, IVS8DS, G-T, +1

Gene:
CLCN5:chloride channel, voltage-sensitive 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.22
Preferred name:
CLCN5, IVS8DS, G-T, +1
HGVS:
    Nucleotide change:
    IVS8DS, G-T, +1
    Links:
    OMIM: 300008.0014

    Condition(s)

    Name:
    Dent disease 1 (NPHL2)
    Synonyms:
    NEPHROLITHIASIS, HYPERCALCIURIC, X-LINKED; Nephrolithiasis, hypercalciuric; Dent disease; See all synonyms [MedGen]
    Identifiers:
    MedGen: C1848336; Orphanet: 1652; Orphanet: 93622; OMIM: 300009
    Age of onset:
    Childhood

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000032811OMIMno assertion criteria providedPathogenic
    (Oct 1, 2009)
    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

    Novel mutations of the CLCN5 gene including a complex allele and A 5' UTR mutation in Dent disease 1.

    Tosetto E, Ceol M, Mezzabotta F, Ammenti A, Peruzzi L, Caruso MR, Barbano G, Vezzoli G, Colussi G, Vergine G, Giordano M, Glorioso N, Degortes S, Soldati L, Sayer J, D'Angelo A, Anglani F.

    Clin Genet. 2009 Oct;76(4):413-6. doi: 10.1111/j.1399-0004.2009.01212.x. Epub 2009 Aug 10. No abstract available.

    PubMed [citation]
    PMID:
    19673950

    Details of each submission

    From OMIM, SCV000032811.1

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

    Description

    In a patient with Dent disease (300009), Tosetto et al. (2009) identified a G-to-T transversion in intron 8 of the CLCN5, resulting in a splice site mutation and generation of an mRNA transcript lacking part of exon 8, which was confirmed by RT-PCR analysis. The mutation truncated the protein at codon 361.

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

    Last Updated: Jan 20, 2016