ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.774T>A (p.Cys258Ter)

dbSNP: rs2143097219
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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 RCV001580213 SCV001809846 pathogenic Glanzmann thrombasthenia 2021-06-15 reviewed by expert panel curation The ITGB3 nonsense variant NM_000212.3:c.774T>A (p.Cys258Ter) is expected to introduce a premature termination codon and the resulting mRNA product is predicted to undergo nonsense mediated decay, leading to loss of normal protein function. This variant has been observed in homozygosity in one individual with a phenotype specific for Glanzmann's thrombasthenia (GT) (Patient N, PMID: 26096001). Furthermore, this variant is absent from population databases. In summary, this variant meets criteria to be classified as pathogenic for GT. GT-specific criteria applied: PVS1, PM2_supporting, PM3_supporting, PP4_moderate.
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002254214 SCV002525470 likely pathogenic Glanzmann thrombasthenia 1 no assertion criteria provided research

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