ClinVar Miner

Submissions for variant NM_015175.3(NBEAL2):c.5125G>T (p.Glu1709Ter)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447781 SCV004175527 likely pathogenic Gray platelet syndrome 2023-07-06 criteria provided, single submitter clinical testing The NBEAL2 c.5125G>T variant is classified as Likely Pathogenic (PVS1_Strong, PM2) The NBEAL2 c.5125G>T variant is a single nucleotide change which is predicted to result in premature termination of the protein product at codon 1709. This variant is absent from population databases (PM2). This variant has not been reported in dbSNP, ClinVar or HGMD.

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.