Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000804198 | SCV000944094 | pathogenic | Cerebral cavernous malformation 3 | 2019-02-04 | criteria provided, single submitter | clinical testing | 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.Lys132*) in the PDCD10 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PDCD10 are known to be pathogenic (PMID: 15543491, 18300272, 23801932). For these reasons, this variant has been classified as Pathogenic. |