Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV003240960 | SCV003943025 | uncertain significance | Inborn genetic diseases | 2023-05-17 | criteria provided, single submitter | clinical testing | The c.1105C>G (p.H369D) alteration is located in exon 12 (coding exon 12) of the ITGA2B gene. This alteration results from a C to G substitution at nucleotide position 1105, causing the histidine (H) at amino acid position 369 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV003500822 | SCV004263944 | uncertain significance | Glanzmann thrombasthenia | 2024-01-25 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with aspartic acid, which is acidic and polar, at codon 369 of the ITGA2B protein (p.His369Asp). This variant is present in population databases (rs374323511, gnomAD 0.006%). 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: 2515858). 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. |