Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001069685 | SCV001234872 | pathogenic | Cornelia de Lange syndrome 1 | 2019-02-05 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with NIPBL-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln2617Leufs*14) 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). For these reasons, this variant has been classified as Pathogenic. |