ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.7219C>T (p.Arg2407Ter) (rs398124471)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146719 SCV000194035 pathogenic Cornelia de Lange syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790738 SCV000230602 pathogenic not provided 2017-04-14 criteria provided, single submitter clinical testing
Invitae RCV000146719 SCV000657501 pathogenic Cornelia de Lange syndrome 1 2017-04-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 2407 (p.Arg2407*) of the NIPBL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NIPBL are known to be pathogenic. This particular variant has been reported in the literature in and individual with Cornelia de Lange syndrome (PMID: 17661813). For these reasons, this variant has been classified as Pathogenic.

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