ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.559del (p.Val187fs)

dbSNP: rs1469711487
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV000851822 SCV001809918 pathogenic Glanzmann thrombasthenia 2021-05-07 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.559del (p.Val187TrpfsTer37) frameshift variant has been reported homozygous in at least 2 GT probands (PMIDs: 19691478, 31064749). It is predicted to undergo NMD due to creation of a premature stop codon in exon 7. The overall allele frequency in gnomAD is extremely low at 0.000004723, with a MAF of 0.00003507 in the South Asian population. In summary, this variant meets criteria to be classified as Pathogenic for GT. GT-specific criteria applied: PVS1, PM2_supporting, PM3_supporting, and PP4_moderate.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851822 SCV000899806 pathogenic Glanzmann thrombasthenia 2019-02-01 criteria provided, single submitter research
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002222050 SCV002499592 likely pathogenic Glanzmann thrombasthenia 1 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000851822 SCV004491995 pathogenic Glanzmann thrombasthenia 2023-06-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 627093). This premature translational stop signal has been observed in individual(s) with Glanzmann thrombasthenia (PMID: 19691478). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Val187Trpfs*37) in the ITGA2B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ITGA2B are known to be pathogenic (PMID: 21917754).

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