ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.1458C>G (p.Cys486Trp)

dbSNP: rs1255017270
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
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV001225244 SCV001397496 likely pathogenic Glanzmann thrombasthenia 2023-11-02 reviewed by expert panel curation The c.1458C>G (p.Cys486Trp) variant has been reported in the literature in at least 1 compound heterozygous proband in trans with pathogenic variant Trp11Arg (PMID: 25373348) and a homozygote in an abstract (Von Bargen et al., 2018; PM3). One proband (PMID: 25373348) meets the criteria for PP4_Strong; including mucocutaneous bleeding, impaired aggregation with all agonists except ristocetin, and reduced surface expression of αIIbβ3 measured by flow cytometry. It is absent from gnomADv2.1.1 (PM2_supporting) and is predicted to have a deleterious effect (REVEL score of 0.909; PP3). In summary, this variant meets criteria to be classified as Likely Pathogenic for GT. GT-specific criteria applied: PM2_supporting, PM3, PP3, and PP4_strong.

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.