ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro) (rs587784030)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000361663 SCV000330667 pathogenic not provided 2017-12-29 criteria provided, single submitter clinical testing The A2338P pathogenic variant in the NIPBL gene has been reported previously as an apparently de novo variant in an individual with a diagnosis of Cornelia de Lange syndrome (Nizon et al., 2016). The A2338P variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A2338P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret A2338P as a pathogenic variant.
Genetic Services Laboratory, University of Chicago RCV000146711 SCV000194027 likely pathogenic Cornelia de Lange syndrome 1 2014-02-20 criteria provided, single submitter clinical testing

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