ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.113del (p.Gln38fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV002511562 SCV002820959 pathogenic Glanzmann thrombasthenia 2022-12-01 reviewed by expert panel curation NM_000419.5(ITGA2B):c.113del (p.Gln38ArgfsTer73) found in a homozygous proband (PMID: 29084015; PM3_supporting) causes a premature stop codon at exon 3 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 conclusion the criteria PVS1, PP4_strong, PM2_supporting, and PM3_supporting, were applied to reach a classification of pathogenic.

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