ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1214T>C (p.Ile405Thr)

gnomAD frequency: 0.00001  dbSNP: rs75622274
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV001225235 SCV001397485 pathogenic Glanzmann thrombasthenia 2021-03-05 reviewed by expert panel curation The c.1214T>C (p.Ile405Thr) variant has been reported in at least four compound heterozygous probands (PMIDs: 12424194, 12083483, 24418945, 25728920) with a phenotype highly specific to GT. In one case the variant cosegregated with disease in the proband and two siblings (PMID: 12424194). It is absent from Exac and gnomAD. In summary, this variant meets criteria to be classified as Pathogenic for GT. GT-specific criteria applied: PM3_Strong, PM2_Supporting, PP1_Moderate, PP3 and PP4_Strong.
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002280899 SCV002569350 pathogenic Glanzmann thrombasthenia 1 criteria provided, single submitter clinical testing

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