ClinVar Miner

Submissions for variant NM_000171.4(GLRA1):c.1213C>T (p.Arg405Ter)

gnomAD frequency: 0.00001  dbSNP: rs375152105
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 RCV002247864 SCV002517142 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV004816983 SCV005439025 uncertain significance Hyperekplexia 1 criteria provided, single submitter clinical testing The stop gained variant c.1213C>T p.Arg405Ter in the GLRA1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency 0.0007% in the gnomAD Exomes. This variant has been reported to the ClinVar database as Uncertain Significance. However, no details are available for independent assessment. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants has been previously reported to be disease causing Bode et al., 2013. However, since this variant is present in the last exon functional studies will be required to prove protein truncation. For these reasons, this variant has been classified as 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.