ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.55dup (p.Ala19fs)

dbSNP: rs1302506624
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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 RCV000851823 SCV003915995 pathogenic Glanzmann thrombasthenia 2023-03-21 reviewed by expert panel curation NM_000212.3(ITGB3):c.55dup (p.Ala19GlyfsTer?) is a frameshift variant in exon 1 predicted to cause a premature stop codon in biologically-relevant-exon 2/15 and is predicted to lead to nonsense mediated decay in a gene in which loss-of-function is an established mechanism (PVS1). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). Patient TGP0454, PMID:31064749, is reported to have a clinical diagnosis of GT type 1 and is homozygous for this variant (PM3_supporting). In summary, this variant meets the criteria to be classified as Pathogenic for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PVS1, PM2_supporting, PM3_supporting (VCEP specifications version 2.1).
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851823 SCV000899807 likely pathogenic Glanzmann thrombasthenia 2019-02-01 criteria provided, single submitter research

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