Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000796954 | SCV000936490 | pathogenic | Niemann-Pick disease, type C2 | 2020-12-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NPC2 are known to be pathogenic (PMID: 25145893). This variant has not been reported in the literature in individuals with NPC2-related disease. This variant is present in population databases (rs767899043, ExAC 0.002%). This sequence change creates a premature translational stop signal (p.Cys27Leufs*42) in the NPC2 gene. It is expected to result in an absent or disrupted protein product. |