ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.624+6T>C

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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 RCV003501341 SCV004266472 uncertain significance Glanzmann thrombasthenia 2023-09-22 criteria provided, single submitter clinical testing 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with ITGA2B-related conditions. This variant is present in population databases (rs370053644, gnomAD 0.01%). This sequence change falls in intron 5 of the ITGA2B gene. It does not directly change the encoded amino acid sequence of the ITGA2B protein. It affects a nucleotide within the consensus splice site.

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