Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001235820 | SCV001408525 | uncertain significance | Leukocyte adhesion deficiency 1 | 2023-10-03 | 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 646 of the ITGB2 protein (p.Ala646Val). This variant is present in population databases (rs201413647, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ITGB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 962035). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ITGB2 protein function. 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 | RCV004629511 | SCV005126797 | uncertain significance | Inborn genetic diseases | 2024-05-26 | criteria provided, single submitter | clinical testing | The c.1937C>T (p.A646V) alteration is located in exon 14 (coding exon 13) of the ITGB2 gene. This alteration results from a C to T substitution at nucleotide position 1937, causing the alanine (A) at amino acid position 646 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |