Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000685921 | SCV000813422 | pathogenic | Adams-Oliver syndrome 5 | 2018-09-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NOTCH1 are known to be pathogenic (PMID: 16025100, 21457232, 25132448, 25963545). This variant has not been reported in the literature in individuals with NOTCH1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys1357*) in the NOTCH1 gene. It is expected to result in an absent or disrupted protein product. |