ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.538G>A (p.Gly180Arg)

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 RCV003222579 SCV003916007 uncertain significance Glanzmann thrombasthenia 2023-04-06 reviewed by expert panel curation The NM_000212.3(ITGB3):c.538G>A (p.Gly180Arg) missense variant has been reported in one patient (Patient 5, PMID: 31029159) stated to have clinical diagnosis of Glanzmann thrombasthenia but insufficient information was available to determine if the phenotype is highly specific to GT. It has a REVEL score of 0.958, which is above the ClinGen PD VCEP threshold of >0.7 and predicts a damaging effect on function (PP3). The highest population minor allele frequency in gnomAD v 2.1.1 is 0.00003266 (1/30614 alleles) in the South Asian population, which is lower than the ClinGen PD VCEP threshold (<0.0001; 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: PM2_supporting, PP3 (VCEP specifications version 2.1).

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.