Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001061953 | SCV001226720 | pathogenic | Neuronal ceroid lipofuscinosis 1 | 2019-12-03 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PPT1 are known to be pathogenic (PMID: 10679943). This variant has not been reported in the literature in individuals with PPT1-related conditions. This sequence change creates a premature translational stop signal (p.Gln97Glyfs*4) in the PPT1 gene. It is expected to result in an absent or disrupted protein product. |
Natera, |
RCV001061953 | SCV002086000 | pathogenic | Neuronal ceroid lipofuscinosis 1 | 2020-11-23 | no assertion criteria provided | clinical testing |