ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2267+1G>T

dbSNP: rs2048550327
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 RCV001225274 SCV001397541 pathogenic Glanzmann thrombasthenia 2022-12-01 reviewed by expert panel curation NM_000419.4:c.2267+1G>T is a canonical splice site variant that alters the donor site in intron 22. This is expected to result in aberrant splicing with skipping of exon 22 resulting in a frameshift with a premature stop codon in exon 24 which would lead to NMD (PVS1). It is absent from population databases (PM2_supporting). The variant is reported in 1 compound heterozygous individual with the Gln778Pro pathogenic variant in trans (PMID: 29675921; PM3_supporting). This patient has a phenotype highly specific to GT, including mucocutaneous bleeding, impaired aggregation with all agonists except ristocetin, and reduced surface expression of aIIbß3 measured by flow cytometry (PP4_strong). In summary, this variant is classified as pathogenic. GT-specific criteria applied: PVS1, PM2_Supporting, PM3_Supporting, 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.