ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.400G>A (p.Asp134Asn)

gnomAD frequency: 0.00001  dbSNP: rs745917556
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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 RCV000685764 SCV000813261 uncertain significance Leukocyte adhesion deficiency 1 2018-03-25 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 134 of the ITGB2 protein (p.Asp134Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs745917556, ExAC 0.001%). This variant has not been reported in the literature in individuals with ITGB2-related disease. Experimental studies have shown that this missense change variant fails to support the surface expression of β2 integrins.(PMID: 25514840). 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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