ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1768C>T (p.Arg590Trp)

gnomAD frequency: 0.00003  dbSNP: rs373204738
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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 RCV001325429 SCV001516421 uncertain significance Glanzmann thrombasthenia 2024-01-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 590 of the ITGA2B protein (p.Arg590Trp). This variant is present in population databases (rs373204738, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with ITGA2B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1025150). 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 expected to disrupt ITGA2B protein function with a positive predictive value of 80%. 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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