Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000020644 | SCV001412690 | pathogenic | Niemann-Pick disease, type C2 | 2019-11-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys47*) in the NPC2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Niemann-Pick Type C (PMID: 15937921, 28095804). ClinVar contains an entry for this variant (Variation ID: 21456). Loss-of-function variants in NPC2 are known to be pathogenic (PMID: 25145893). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000020644 | SCV000041167 | pathologic | Niemann-Pick disease, type C2 | 2008-07-22 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |
Foundation for Research in Genetics and Endocrinology, |
RCV000020644 | SCV000272928 | pathogenic | Niemann-Pick disease, type C2 | 2014-06-25 | no assertion criteria provided | research |