Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001043430 | SCV001207177 | pathogenic | Niemann-Pick disease, type C1 | 2019-11-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NPC1 are known to be pathogenic (PMID: 9211850). This variant has not been reported in the literature in individuals with NPC1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys417Thrfs*31) in the NPC1 gene. It is expected to result in an absent or disrupted protein product. |