ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2242G>A (p.Val748Met)

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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 RCV003605248 SCV004449876 uncertain significance Glanzmann thrombasthenia 2023-07-31 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 (rs139086448, gnomAD 0.05%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 748 of the ITGA2B protein (p.Val748Met).
Ambry Genetics RCV004371815 SCV004889455 uncertain significance Inborn genetic diseases 2023-09-25 criteria provided, single submitter clinical testing The c.2242G>A (p.V748M) alteration is located in exon 22 (coding exon 22) of the ITGA2B gene. This alteration results from a G to A substitution at nucleotide position 2242, causing the valine (V) at amino acid position 748 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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