Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000820319 | SCV000961027 | pathogenic | Cornelia de Lange syndrome 1 | 2022-06-04 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with Cornelia de Lange syndrome (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1517*) 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). ClinVar contains an entry for this variant (Variation ID: 662635). For these reasons, this variant has been classified as Pathogenic. |