ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2010C>A (p.Asn670Lys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003820024 SCV004618391 uncertain significance Glanzmann thrombasthenia 2024-01-25 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 670 of the ITGA2B protein (p.Asn670Lys). This variant is present in population databases (rs372777804, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ITGA2B-related conditions. 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.
CeGaT Center for Human Genetics Tuebingen RCV003886645 SCV004703590 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV003886645 SCV005081166 uncertain significance not provided 2023-12-09 criteria provided, single submitter clinical testing Has not been previously reported in peer-reviewed literature as pathogenic or benign to our knowledge. However, in an abstract by Sabi , 2016, the variant was reported in the homozygous state in a proband with Glanzmann thrombasthenia; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: Sabi[thesis]2016)

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