Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000694769 | SCV000823227 | pathogenic | Pigmentary pallidal degeneration | 2023-04-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 573171). This premature translational stop signal has been observed in individual(s) with pantothenate kinase-associated neurodegeneration (PMID: 26828213). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe419Leufs*31) in the PANK2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PANK2 are known to be pathogenic (PMID: 11479594, 12510040). |