ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.59T>C (p.Leu20Pro)

dbSNP: rs2149057083
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 RCV002254807 SCV002525896 uncertain significance Glanzmann thrombasthenia 2022-04-07 reviewed by expert panel curation The NM_000212.3:c.59T>C variant in ITGB3 is a missense variant predicted to cause substitution of leucine by proline at amino acid 20 (p.Leu20Pro). This variant has been observed in homozygosity in one individual (GT10 in PMID: 19691478) (PM3_Supporting). This individual displayed mucocutaneous bleeding and impaired aggregation with all agonists except ristocetin, which is highly specific for Glanzmann thrombasthenia (PP4_Moderate). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). In summary, due to insufficient evidence, this variant is classified as a variant of uncertain significance for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD-VCEP: PM2_Supporting, PM3_Supporting, PP4_Moderate. (VCEP specifications version 2; date of approval 03/15/2022)

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.