ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr)

dbSNP: rs179363873
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000087123 SCV000119984 likely pathogenic Leukocyte adhesion deficiency 1 2020-05-03 criteria provided, single submitter clinical testing
Invitae 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.
UniProtKB/Swiss-Prot RCV000059050 SCV000090571 not provided not provided no assertion provided not provided

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