ClinVar Miner

Submissions for variant NM_006545.5(NPRL2):c.884G>A (p.Arg295Gln)

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
Ambry Genetics RCV002687940 SCV003555122 uncertain significance Inborn genetic diseases 2021-10-14 criteria provided, single submitter clinical testing The c.884G>A (p.R295Q) alteration is located in exon 9 (coding exon 9) of the NPRL2 gene. This alteration results from a G to A substitution at nucleotide position 884, causing the arginine (R) at amino acid position 295 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV004783030 SCV005395884 uncertain significance Epilepsy, familial focal, with variable foci 2 2023-09-08 criteria provided, single submitter 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.