Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000822290 | SCV000963086 | pathogenic | Pigmentary pallidal degeneration | 2021-02-20 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PANK2 are known to be pathogenic (PMID: 11479594, 12510040). This variant has not been reported in the literature in individuals with PANK2-related disease. This sequence change creates a premature translational stop signal (p.Arg286Leufs*45) in the PANK2 gene. It is expected to result in an absent or disrupted protein product. |