ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1389C>G (p.Tyr463Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003606210 SCV004412645 pathogenic Glanzmann thrombasthenia 2023-09-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr463*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ITGA2B-related conditions. For these reasons, this variant has been classified as Pathogenic.

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