ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.659A>G (p.Tyr220Cys)

dbSNP: rs1355838837
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 RCV001803438 SCV002047590 likely pathogenic Glanzmann thrombasthenia 2021-09-03 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.659A>G (p.Tyr220Cys) has been identified in at least 2 probands, including GT35 of PMID: 29675921 meeting the criteria for PP4_strong criteria. Patient GT35 of PMID: 29675921 is compound heterozygous for Tyr220Cys and c.625-1G>A (classified Pathogenic by the PD-EP) and Patient 436 of the GT database is compound heterozygous for Tyr220Cys and Ala271Gly (classified VUS by the PD-EP) (PM3_supporting). The highest population minor allele frequency in gnomAD v2.1.1 is 0.00003266 (1/30614alleles) in the South Asian population, which is lower than the ClinGen PD VCEP threshold (<0.0001) for PM2_Supporting, meeting this criterion (PM2_Supporting). In summary, this variant meets the criteria to be classified as Likely Pathogenic for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PM2_supporting, PM3_supporting, PP4_strong. (VCEP specifications version 2; date of approval 09/02/2021)

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.