ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2198C>T (p.Ala733Val)

gnomAD frequency: 0.00008  dbSNP: rs201042087
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272665 SCV002556639 uncertain significance Platelet-type bleeding disorder 16 2020-07-31 criteria provided, single submitter clinical testing 1 xPM2
Ambry Genetics RCV003096131 SCV003540493 uncertain significance Inborn genetic diseases 2021-08-23 criteria provided, single submitter clinical testing The c.2198C>T (p.A733V) alteration is located in exon 22 (coding exon 22) of the ITGA2B gene. This alteration results from a C to T substitution at nucleotide position 2198, causing the alanine (A) at amino acid position 733 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003605781 SCV004550327 uncertain significance Glanzmann thrombasthenia 2023-01-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 733 of the ITGA2B protein (p.Ala733Val). 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. ClinVar contains an entry for this variant (Variation ID: 1698808). This variant has not been reported in the literature in individuals affected with ITGA2B-related conditions. This variant is present in population databases (rs201042087, gnomAD 0.008%).

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