Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000086375 | SCV000193873 | pathogenic | Cornelia de Lange syndrome 1 | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001090998 | SCV001246812 | pathogenic | not provided | 2018-09-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000086375 | SCV002054147 | pathogenic | Cornelia de Lange syndrome 1 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000086375 | SCV003525816 | pathogenic | Cornelia de Lange syndrome 1 | 2022-03-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 99926). This premature translational stop signal has been observed in individual(s) with Cornelia de Lange syndrome (PMID: 23304577, 26701315). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg1149*) 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). |