Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668626 | SCV000793260 | likely pathogenic | Niemann-Pick disease, type C1 | 2017-08-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000668626 | SCV001381544 | pathogenic | Niemann-Pick disease, type C1 | 2022-04-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp994Argfs*13) in the NPC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPC1 are known to be pathogenic (PMID: 9211850). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NPC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 553225). For these reasons, this variant has been classified as Pathogenic. |
Centogene AG - |
RCV000668626 | SCV001424465 | pathogenic | Niemann-Pick disease, type C1 | criteria provided, single submitter | clinical testing | ||
Fulgent Genetics, |
RCV000668626 | SCV002809750 | likely pathogenic | Niemann-Pick disease, type C1 | 2021-08-14 | criteria provided, single submitter | clinical testing |