ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.4593T>G (p.Tyr1531Ter) (rs587783952)

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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 RCV000146614 SCV000193917 pathogenic Cornelia de Lange syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000146614 SCV000657496 pathogenic Cornelia de Lange syndrome 1 2016-08-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1531 (p.Tyr1531*) 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 an individual affected with Cornelia de Lange syndrome (PMID: 17106445). For these reasons, this variant has been classified as Pathogenic.

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