Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000803694 | SCV000943577 | pathogenic | Pigmentary pallidal degeneration | 2023-12-09 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 5 of the PANK2 gene. It does not directly change the encoded amino acid sequence of the PANK2 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of neurodegeneration with brain iron accumulation (PMID: 11479594; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 648878). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
| Mendelics | RCV000803694 | SCV002517846 | pathogenic | Pigmentary pallidal degeneration | 2022-05-04 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV003233854 | SCV003930501 | likely pathogenic | not provided | 2022-12-09 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 11479594, 25525159, 29213449) |