ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.409-1G>A

gnomAD frequency: 0.00001  dbSNP: rs1393747638
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
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV000851783 SCV001809900 likely pathogenic Glanzmann thrombasthenia 2024-03-07 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.409-1G>A splice variant is predicted to result in the skipping of exon 4 of 30, causing a frameshift with a premature stop codon in the next exon which is predicted to result to in NMD. The variant has been reported in at least one GT patient (PMID: 31064749). The highest population minor allele frequency in gnomADv4.0 is 0.000009322 (11/1,180,002 alleles) in the European (non-Finnish) population, which is lower than the ClinGen PD VCEP threshold (<0.0001; PM2_Supporting). In summary, this variant meets criteria to be classified as likely pathogenic for GT. GT-specific criteria applied: PM2_Supporting and PVS1.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851783 SCV000899718 pathogenic Glanzmann thrombasthenia 2019-02-01 criteria provided, single submitter research

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.