Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000990271 | SCV001141199 | pathogenic | Pigmentary pallidal degeneration | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000990271 | SCV002229427 | pathogenic | Pigmentary pallidal degeneration | 2023-08-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr190*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PANK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 803593). For these reasons, this variant has been classified as Pathogenic. |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002245821 | SCV002512734 | likely pathogenic | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration; Pigmentary pallidal degeneration | 2021-05-07 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1, PM2 |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252289 | SCV002523740 | pathogenic | See cases | 2020-06-24 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1, PS4, PM2 |