Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000644583 | SCV000766283 | pathogenic | Cerebral cavernous malformation 3 | 2017-12-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PDCD10 are known to be pathogenic (PMID: 15543491, 23801932). This variant has not been reported in the literature in individuals with PDCD10-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr170*) in the PDCD10 gene. It is expected to result in an absent or disrupted protein product. |
Prevention |
RCV000721809 | SCV000852950 | likely pathogenic | not provided | 2015-04-21 | criteria provided, single submitter | clinical testing |