ClinVar Miner

Submissions for variant NM_000173.7(GP1BA):c.987G>A (p.Trp329Ter)

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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004587990 SCV005075836 pathogenic Bernard Soulier syndrome 2024-04-02 criteria provided, single submitter clinical testing Variant summary: GP1BA c.987G>A (p.Trp329X) results in a premature termination codon, predicted to cause a truncation of the encoded protein, however it is not expected to undergo NMD. Pathogenic variants have been observed downstream in ClinVar. The variant was absent in 249264 control chromosomes. c.987G>A has been reported in the literature in individuals affected with Bernard Soulier Syndrome (Li_2015). These data indicate that the variant may be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function and shows an impact on protein function (Li_2015). The following publication have been ascertained in the context of this evaluation (PMID: 26133172). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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.