ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.466G>A (p.Val156Met)

gnomAD frequency: 0.00002  dbSNP: rs753145257
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000584963 SCV000693049 uncertain significance not provided 2017-09-01 criteria provided, single submitter clinical testing
Invitae RCV001853955 SCV002122884 uncertain significance Pigmentary pallidal degeneration 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 266 of the PANK2 protein (p.Val266Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs753145257, ExAC 0.004%). 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: 493317). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.