ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.1955A>T (p.His652Leu)

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 RCV002511523 SCV002820912 uncertain significance Glanzmann thrombasthenia 2022-10-06 reviewed by expert panel curation The NM_000212.3(ITGB3):c.1955A>T (p.His652Leu) missense variant has been reported homozygous in two affected siblings (Ssyl and Ssab in PMID: 11798398; PM3_supporting; PP1). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). In summary, this variant meets the criteria to be classified as uncertain significance for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PP1, PM2_supporting, 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.