ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.355C>T (p.Arg119Trp) (rs781062792)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel,ClinGen RCV001003532 SCV001478542 uncertain significance Glanzmann thrombasthenia 2020-09-08 reviewed by expert panel curation The NM_000212.3(ITGB3):c.355C>T variant predicts a missense change, Arg119Trp. It is reported at a frequency of 0.0001307 (4/30614 South Asian alleles) in gnomAD v2.1.1 and does not meet PM2_Supporting. At least 2 GT patients (compound heterozygous) with the variant have been reported in the literature (PMID: 12083483). The variant has a REVEL score of 0.883, meeting criteria for PP3 (threshold: >0.7). Another variant, Arg119Gln, evaluated as a VUS by the Platelet Disorders VCEP, has been reported at the same residue. In summary, there is insufficient evidence at this time to classify the Arg119Trp variant. GT-specific criteria met: PP3, PP4_strong.
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003532 SCV001161858 likely pathogenic Glanzmann thrombasthenia no assertion criteria provided research

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.