Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000704470 | SCV000833421 | pathogenic | Cornelia de Lange syndrome 1 | 2019-08-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NIPBL are known to be pathogenic (PMID: 15318302, 19763162, 23505322, 29995837). Disruption of this splice site has been observed in individuals affected with clinical features of Cornelia de Lange syndrome (PMID: 23254390, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 16 of the NIPBL gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |