Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002944325 | SCV003287488 | uncertain significance | Glanzmann thrombasthenia | 2024-01-29 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 774 of the ITGA2B protein (p.Arg774Gln). This variant is present in population databases (rs146892478, gnomAD 0.02%). 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: 2074473). 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 with a negative 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. |
| Ambry Genetics | RCV004065050 | SCV004889457 | uncertain significance | Inborn genetic diseases | 2023-09-21 | criteria provided, single submitter | clinical testing | The c.2321G>A (p.R774Q) alteration is located in exon 23 (coding exon 23) of the ITGA2B gene. This alteration results from a G to A substitution at nucleotide position 2321, causing the arginine (R) at amino acid position 774 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Prevention |
RCV004738648 | SCV005348157 | uncertain significance | ITGA2B-related disorder | 2024-04-01 | no assertion criteria provided | clinical testing | The ITGA2B c.2321G>A variant is predicted to result in the amino acid substitution p.Arg774Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.017% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |