ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.1646G>C (p.Cys549Ser)

dbSNP: rs1395325049
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 RCV001290468 SCV001478504 likely pathogenic Glanzmann thrombasthenia 2020-11-06 reviewed by expert panel curation The NM_000212.3(ITGB3):c.1646G>C (p.Cys549Ser) variant is reported in at least 2 compound heterozygous GT probands as well as one additional affected family member (PMID: 31088191). It is found at an extremely low frequency with a MAF of 0.00005453 in the East Asian gnomAD population and it is predicted damaging by in-silico tools (REVEL score of 0.885). In summary, this variant meets criteria to be classified as Likely Pathogenic for GT. GT-specific criteria applied: PM2_Supporting, PM3, PP1, PP3, and PP4_Strong.

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.