Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002602194 | SCV002958855 | uncertain significance | Glanzmann thrombasthenia | 2023-08-20 | 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. ClinVar contains an entry for this variant (Variation ID: 1918850). This variant has not been reported in the literature in individuals affected with ITGA2B-related conditions. This variant is present in population databases (rs767428437, gnomAD 0.03%). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 274 of the ITGA2B protein (p.Glu274Asp). |
| Ambry Genetics | RCV002602193 | SCV003730303 | uncertain significance | Inborn genetic diseases | 2022-07-14 | criteria provided, single submitter | clinical testing | The c.822G>C (p.E274D) alteration is located in exon 8 (coding exon 8) of the ITGA2B gene. This alteration results from a G to C substitution at nucleotide position 822, causing the glutamic acid (E) at amino acid position 274 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |