ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.495G>T (p.Gln165His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003606670 SCV004511200 uncertain significance Glanzmann thrombasthenia 2022-12-02 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ITGA2B protein function. 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. This variant has not been reported in the literature in individuals affected with ITGA2B-related conditions. This variant is present in population databases (rs748310417, gnomAD 0.002%). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 165 of the ITGA2B protein (p.Gln165His).
PreventionGenetics, part of Exact Sciences RCV004554295 SCV004760005 uncertain significance ITGA2B-related disorder 2023-12-24 no assertion criteria provided clinical testing The ITGA2B c.495G>T variant is predicted to result in the amino acid substitution p.Gln165His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0016% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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