Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001861860 | SCV002153607 | pathogenic | Pigmentary pallidal degeneration | 2023-06-29 | 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: 560475). This variant is also known as 987delT. This premature translational stop signal has been observed in individual(s) with clinical features of PANK2-related conditions (PMID: 16023068). This variant is present in population databases (rs544616523, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Arg440Valfs*10) 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). |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000678590 | SCV000804672 | pathogenic | Cone-rod dystrophy | 2016-09-01 | no assertion criteria provided | clinical testing |