ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1073G>A (p.Arg358His)

dbSNP: rs137852908
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV000003030 SCV001397515 pathogenic Glanzmann thrombasthenia 2021-03-05 reviewed by expert panel curation The c.1073G>A (p.Arg358His) variant has been reported, in the homozygous state, in at least four probands (PMIDs: 8883261, 25728920, 19691478, 7706461) and once in a compound heterozygous case (PMID: 21557682), several of whom meet all diagnostic criteria for a phenotype highly specific to GT. This variant is absent from ExAC and gnomAD. In summary, this variant meets criteria to be classified as pathogenic for GT. GT-specific criteria applied: PM2_supporting, PM3_strong, and PP4_strong.
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV001580162 SCV002500890 pathogenic Glanzmann thrombasthenia 1 criteria provided, single submitter clinical testing
3billion RCV001580162 SCV003841457 pathogenic Glanzmann thrombasthenia 1 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000002896). The variant has been observed in multiple (>3) similarly affected unrelated individuals (PMID: 19691478, 25728920, 7706461, 8883261). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV001580162 SCV000023188 pathogenic Glanzmann thrombasthenia 1 2021-04-13 no assertion criteria provided literature only

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