Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
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. |