ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.6707dup (p.Asn2236fs)

dbSNP: rs797045778
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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 RCV000194372 SCV000248236 pathogenic Cornelia de Lange syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000194372 SCV004306900 pathogenic Cornelia de Lange syndrome 1 2024-04-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn2236Lysfs*18) in 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 (PMID: 15318302, 19763162, 23505322, 29995837). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NIPBL-related conditions. ClinVar contains an entry for this variant (Variation ID: 211656). For these reasons, this variant has been classified as Pathogenic.

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