ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2993G>T (p.Trp998Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003312391 SCV004009806 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing ITGA2B: PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV003500833 SCV004269776 uncertain significance Glanzmann thrombasthenia 2023-06-04 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. 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. This variant has not been reported in the literature in individuals affected with ITGA2B-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces tryptophan, which is neutral and slightly polar, with leucine, which is neutral and non-polar, at codon 998 of the ITGA2B protein (p.Trp998Leu).

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