ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.1370T>A (p.Leu457Ter)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002627364 SCV002971072 uncertain significance Pigmentary pallidal degeneration 2022-08-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu567*) in the PANK2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 4 amino acid(s) of the PANK2 protein. 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. This variant disrupts a region of the PANK2 protein in which other variant(s) (p.Pro570Leu) have been observed in individuals with PANK2-related conditions (PMID: 20629144). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.