ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2148dup (p.Leu717fs)

dbSNP: rs1598377980
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV001044708 SCV001809925 pathogenic Glanzmann thrombasthenia 2020-12-09 reviewed by expert panel curation The p.Leu717fsTer3 variant on ITGA2B is a frameshift variant located on exon 21,which is predicted to introduce a premature stop codon leading to nonsense medicated decay and loss of protein function. This variant has been reported in at least one proband in a homozygous state who meets criteria for the GT phenotype. This variant is absent from all large population databases. In summary, p.Leu717fs*3 variant meets criteria for PVS1, PP4_strong, PM3_supporting and PM2_supporting and is classified as Pathogenic for GT.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852070 SCV000899595 likely pathogenic Macrothrombocytopenia 2019-02-01 criteria provided, single submitter research
Invitae RCV001044708 SCV001208519 pathogenic Glanzmann thrombasthenia 2020-02-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ITGA2B are known to be pathogenic (PMID: 21917754). This variant has been observed in individual(s) with autosomal recessive Glanzmann thrombasthenia (PMID: 25728920). ClinVar contains an entry for this variant (Variation ID: 627273). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu717Alafs*3) in the ITGA2B gene. It is expected to result in an absent or disrupted protein product.

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