ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2153dup (p.Cys718fs)

dbSNP: rs2048557642
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 RCV001225256 SCV001397517 pathogenic Glanzmann thrombasthenia 2020-09-04 reviewed by expert panel curation The c.2153dup (p.Cys718Trpfs) frameshift variant has been reported in at least one compound heterozygous proband (PMID: 11798398) with a phenotype highly specific to GT. It is predicted to undergo NMD due to creation of a premature stop codon in exon 21. This variant is absent from controls in gnomAD, ExAC, and 1000 genomes. In summary, this variant meets criteria to be classified as Pathogenic for GT. GT-specific criteria applied: PVS1, PM2_supporting, and PP4_moderate.

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.