ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.2315del (p.Ser772fs) (rs1064796481)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478771 SCV000573247 pathogenic not provided 2017-02-13 criteria provided, single submitter clinical testing The c.2315delC pathogenic variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2315delC variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Several pathogenic frameshift variants in nearby residues (c.2318_2319delCA and c.2322_2323delGA) have been reported in the Human Gene Mutation Database in association with Cornelia de Lange syndrome (Stenson et al., 2014), supporting similar effects are deleterious. Therefore, the presence of this pathogenic variant is consistent with the diagnosis of Cornelia de Lange syndrome

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