ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2390del (p.Gly797fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV002511524 SCV002820914 pathogenic Glanzmann thrombasthenia 2022-09-20 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.2390del (p.Gly797ValfsTer29) frameshift variant in exon 24 is predicted to cause a premature stop codon in biologically-relevant-exon 25/30 and is predicted to lead to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1). At least one patient (Case 9 in PMID: 34066320) with this variant displayed mucocutaneous bleeding and impaired aggregation with all agonists except ristocetin, which is highly specific for Glanzmann thrombasthenia (PP4_moderate). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). In summary, based on the available evidence at this time, the variant is classified as pathogenic for GT. GT-specific criteria applied: PVS1, PM2_supporting, PP4_moderate.

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