Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000004822 | SCV000752214 | pathogenic | Pigmentary pallidal degeneration | 2023-12-06 | criteria provided, single submitter | clinical testing | This variant, c.1442_1444del, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acid(s) in the PANK2 protein (p.Arg481_Glu482delinsGln). This variant is present in population databases (rs766251466, gnomAD 0.008%). This variant has been observed in individual(s) with pantothenate kinase-associated neurodegeneration (PMID: 16240131, 16437574). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 4560). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV001574642 | SCV001801497 | likely pathogenic | not provided | 2019-07-19 | criteria provided, single submitter | clinical testing | In-frame deletion of 2 amino acids and insertion of 1 incorrect amino acid in a non-repeat region; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 16437574, 16240131) |
OMIM | RCV000004822 | SCV000024998 | pathogenic | Pigmentary pallidal degeneration | 2005-12-01 | no assertion criteria provided | literature only |