ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1353C>T (p.Ser451=)

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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 RCV003501377 SCV004268285 uncertain significance Glanzmann thrombasthenia 2023-11-27 criteria provided, single submitter clinical testing This sequence change affects codon 451 of the ITGA2B mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ITGA2B protein. This variant is present in population databases (rs762316789, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with ITGA2B-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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