Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001290476 | SCV001478513 | likely pathogenic | Glanzmann thrombasthenia | 2023-11-02 | reviewed by expert panel | curation | The NM_000212.3:c.1801T>G in ITGB3 results in the missense change, Cys601Gly. The variant is absent from gnomAD v2.1.1 and v3 and meets criteria for PM2. The variant is reported in a homozygous (PM3_supporting) GT patient meeting the GT phenotype criteria (PMID: 16879215; PP4_moderate). The REVEL score for this variant is high (0.985), meeting PP3. The variant occurs at the same residue at which another missense variant, Cys601Arg, which has been classified as pathogenic by the Platelet Disorders VCEP (PM5). In summary, this variant meets criteria to be classified as likely pathogenic. GT-specific criteria met: PM2_Supporting, PP4_Moderate, PP3, PM3_Supporting, PM5. |