ClinVar Miner

Submissions for variant NM_000173.7(GP1BA):c.92T>A (p.Val31Glu)

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
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV003313856 SCV004013045 uncertain significance Bernard-Soulier syndrome, type A2, autosomal dominant criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003396990 SCV004105388 uncertain significance GP1BA-related disorder 2023-06-13 criteria provided, single submitter clinical testing The GP1BA c.92T>A variant is predicted to result in the amino acid substitution p.Val31Glu. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. An alternate missense variant at the same amino acid position has been reported in a patient with Bernard-Soulier syndrome and her mildly affected father (Ali et al. 2017. PubMed ID: 26849716). At this time, the clinical significance of the p.Val31Glu variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.