Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003113765 | SCV003796848 | pathogenic | Pigmentary pallidal degeneration | 2021-12-22 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 3-4 of the PANK2 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in PANK2 are known to be pathogenic (PMID: 11479594, 12510040). A similar copy number variant has been observed in individual(s) with neurodegeneration with brain iron accumulation (PMID: 16437574). For these reasons, this variant has been classified as Pathogenic. |