ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.169C>A (p.Pro57Thr)

dbSNP: rs1401782366
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001988875 SCV002278652 uncertain significance Leukocyte adhesion deficiency 1 2021-09-19 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This sequence change replaces proline with threonine at codon 57 of the ITGB2 protein (p.Pro57Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. This variant has not been reported in the literature in individuals affected with ITGB2-related conditions. This variant is not present in population databases (ExAC no frequency).

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