ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2044G>A (p.Val682Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002955887 SCV003684016 uncertain significance Inborn genetic diseases 2022-11-18 criteria provided, single submitter clinical testing The c.2044G>A (p.V682M) alteration is located in exon 20 (coding exon 20) of the ITGA2B gene. This alteration results from a G to A substitution at nucleotide position 2044, causing the valine (V) at amino acid position 682 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003500802 SCV004353878 uncertain significance Glanzmann thrombasthenia 2023-08-29 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 682 of the ITGA2B protein (p.Val682Met). This variant is present in population databases (rs13306473, gnomAD 0.005%). 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: 2342090). 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.

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