Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001917318 | SCV002149962 | uncertain significance | Leukocyte adhesion deficiency 1 | 2022-09-01 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). ClinVar contains an entry for this variant (Variation ID: 1380806). This variant has not been reported in the literature in individuals affected with ITGB2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 402 of the ITGB2 protein (p.Gly402Asp). |
| Ambry Genetics | RCV004631783 | SCV005126796 | uncertain significance | Inborn genetic diseases | 2024-05-20 | criteria provided, single submitter | clinical testing | The c.1205G>A (p.G402D) alteration is located in exon 10 (coding exon 9) of the ITGB2 gene. This alteration results from a G to A substitution at nucleotide position 1205, causing the glycine (G) at amino acid position 402 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |