ClinVar Miner

Submissions for variant NM_003560.4(PLA2G6):c.2032A>G (p.Lys678Glu)

gnomAD frequency: 0.00001  dbSNP: rs2087135251
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
Mendelics RCV002250242 SCV002518872 pathogenic Infantile neuroaxonal dystrophy 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002250242 SCV003444487 uncertain significance Infantile neuroaxonal dystrophy 2022-08-25 criteria provided, single submitter clinical testing This missense change has been observed in individuals with clinical features of PLA2G6-related conditions (PMID: 27516098; Invitae). ClinVar contains an entry for this variant (Variation ID: 1686075). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 678 of the PLA2G6 protein (p.Lys678Glu).

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.