ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.1986dup (p.Asp663Ter)

dbSNP: rs2143133343
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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 RCV002511140 SCV002820960 pathogenic Glanzmann thrombasthenia 2022-12-01 reviewed by expert panel curation NM_000212.3(ITGB3):c.1986dup (p.Asp663Ter) found in a homozygous proband (PMID: 29084015; PM3_supporting) causes a premature stop codon at exon 12 and is predicted to undergo nonsense mediated decay (PVS1). The affected individual displayed abnormal bleeding and an impaired response to agonists, with a normal response to ristocetin, which is characteristic of GT. Additionally, αIIbβ3 surface expression was absent (<25%), as measured by flow cytometry (PP4_strong). The variant was not found in gnomAD v2.1.1 (PM2_supporting). In summary the criteria PSV1, PP4_strong, PM2_supporting, and PM3_supporting, were applied to reach a classification of pathogenic.
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245424 SCV002515670 likely pathogenic Glanzmann thrombasthenia 1 no assertion criteria provided research

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