ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.7150C>T (p.Gln2384Ter) (rs1057516034)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV000408616 SCV000484426 pathogenic Cornelia de Lange syndrome 1 2014-11-03 criteria provided, single submitter clinical testing This heterozygous variant results in an insertion of a stop codon and premature truncation of the protein, p.(Gln2384*). This is a novel truncating mutation which is predicted to be disease-causing by in-silico software. Haploinsufficiency is the commonest mechanism of pathogenicity in NIPBL-associated Cornelia de Lange syndrome.

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