ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.65-5A>G (rs587784012)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146690 SCV000194003 likely pathogenic Cornelia de Lange syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000146690 SCV000822903 pathogenic Cornelia de Lange syndrome 1 2018-03-22 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the NIPBL gene. It does not directly change the encoded amino acid sequence of the NIPBL protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with Cornelia de Lange syndrome (PMID: 17221863, 17661813 ) and in at least one individual the variant is reported to be de novo (PMID: 15318302. ClinVar contains an entry for this variant (Variation ID: 159196). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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