ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1555C>T (p.Gln519Ter)

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 RCV002511539 SCV002820934 pathogenic Glanzmann thrombasthenia 2022-11-15 reviewed by expert panel curation NM_000419.5(ITGA2B):c.1555C>T (p.Gln519Ter) found in a homozygous proband (PMID:31029159) causes a premature stop codon at exon 16 and is predicted to undergo nonsense mediated decay (PVS1). The variant was not found in gnomAD v2.1.1 (PM2_supporting). It has been detected homozygous in at least 1 proband reported to have Glanzmann thrombasthenia (PM3_supporting; PMID:31029159). In summary, this variant meets the criteria to be classified as pathogenic for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PVS1, PM2_supporting, and PM3_supporting.

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.