ClinVar Miner

Submissions for variant NM_003560.4(PLA2G6):c.2035-926G>A

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002293068 SCV002585932 likely pathogenic not provided 2022-07-01 criteria provided, single submitter clinical testing PLA2G6: PM2, PM3:Supporting, PP1, PP3, PS3:Supporting
Illumina Laboratory Services, Illumina RCV003408219 SCV004123227 uncertain significance PLA2G6-associated neurodegeneration 2023-08-03 criteria provided, single submitter clinical testing The PLA2G6 c.2035-926G>A variant occurs in an intron. This variant has been reported in the literature in trans with a missense variant in an individual with progressive neurologic disease (PMID: 35247231). The c.2035-926G>A variant is not observed in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. A functional study conducted in patient fibroblast cells demonstrated that the c.2035-926G>A variant results in abnormal splicing (PMID: 35247231). This variant is observed in a homozygous state. Based on the available evidence, the c.2035-926G>A variant is classified as a variant of uncertain significance for PLA2G6-associated neurodegeneration.
Undiagnosed Diseases Network, NIH RCV003164492 SCV003915649 uncertain significance Infantile neuroaxonal dystrophy 2022-04-02 no assertion criteria provided clinical testing

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.