Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV002510620 | SCV002820106 | uncertain significance | Pigmentary pallidal degeneration | criteria provided, single submitter | clinical testing | The missense variant p.R506S in PANK2 (NM_153638.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.R506S variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The gene PANK2 contains 16 pathogenic missense variants, indicating that missense variants are a common mechanism of disease in this gene. For these reasons, this variant has been classified as Uncertain Significance. |