ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.1260+9G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Raz Pathobiology and Genetic Laboratory RCV005215803 SCV005688774 likely pathogenic Glanzmann thrombasthenia 2 criteria provided, single submitter clinical testing Parents are heterozygote genotype indicating carrier of this variant.  The B3 integrin gene, also known as ITGB3 (Integrin Subunit Beta 3), encodes a protein that is a crucial part of the integrin family—specifically, the glycoprotein IIb/IIIa complex (GPIIb/IIIa), which is essential for platelet aggregation and blood clotting. Mutations in this gene can lead to various bleeding disorders, most notably Glanzmann thrombasthenia.

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