Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000087123 | SCV000119984 | likely pathogenic | Leukocyte adhesion deficiency 1 | 2020-05-03 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000087123 | SCV004298803 | pathogenic | Leukocyte adhesion deficiency 1 | 2023-07-19 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 68216). This missense change has been observed in individual(s) with leukocyte adhesion deficiency type 1 (PMID: 20549317, 26639818, 33391282). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 239 of the ITGB2 protein (p.Ala239Thr). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects ITGB2 function (PMID: 25514840). 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. |
Uni |
RCV000059050 | SCV000090571 | not provided | not provided | no assertion provided | not provided |