ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.275A>G (p.Asn92Ser)

gnomAD frequency: 0.00004  dbSNP: rs760545709
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803253 SCV000943115 uncertain significance Leukocyte adhesion deficiency 1 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 92 of the ITGB2 protein (p.Asn92Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs760545709, ExAC 0.02%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV003166227 SCV003882966 uncertain significance Inborn genetic diseases 2023-01-23 criteria provided, single submitter clinical testing The c.275A>G (p.N92S) alteration is located in exon 4 (coding exon 3) of the ITGB2 gene. This alteration results from a A to G substitution at nucleotide position 275, causing the asparagine (N) at amino acid position 92 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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