ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.2128G>A (p.Ala710Thr)

gnomAD frequency: 0.00001  dbSNP: rs776689530
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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 RCV000805164 SCV000945111 uncertain significance Leukocyte adhesion deficiency 1 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 710 of the ITGB2 protein (p.Ala710Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs776689530, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with ITGB2-related conditions. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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