ClinVar Miner

Submissions for variant NM_000212.2(ITGB3):c.1366A>C (p.Thr456Pro) (rs1598694640)

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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 RCV000851688 SCV001397578 uncertain significance Glanzmann thrombasthenia 2020-06-04 reviewed by expert panel curation This missense variant, c.1366A>C (p.Thr456Pro), has been reported homozygous once in the literature (PMID: 31064749) however phenotypic details were not provided, only that the patient has a platelet function disease. It is absent from population databases but there is not consensus amongst computational predictors as to the effect of this variant. In summary, this variant meets criteria to be classified as VUS for GT. GT-specific criteria applied: PM2_supporting, PM3_supporting.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851688 SCV000899488 likely pathogenic Glanzmann thrombasthenia 2019-02-01 criteria provided, single submitter research

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