ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.3855+1G>A

dbSNP: rs587783933
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704470 SCV000833421 pathogenic Cornelia de Lange syndrome 1 2019-08-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NIPBL are known to be pathogenic (PMID: 15318302, 19763162, 23505322, 29995837). Disruption of this splice site has been observed in individuals affected with clinical features of Cornelia de Lange syndrome (PMID: 23254390, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 16 of the NIPBL gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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