ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.2295G>C (p.Lys765Asn)

gnomAD frequency: 0.00002  dbSNP: rs750477817
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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 RCV001205367 SCV001376619 uncertain significance Leukocyte adhesion deficiency 1 2022-08-08 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 765 of the ITGB2 protein (p.Lys765Asn). This variant is present in population databases (rs750477817, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with ITGB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 936550). 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 RCV004033645 SCV004888498 uncertain significance Inborn genetic diseases 2023-11-03 criteria provided, single submitter clinical testing The c.2295G>C (p.K765N) alteration is located in exon 16 (coding exon 15) of the ITGB2 gene. This alteration results from a G to C substitution at nucleotide position 2295, causing the lysine (K) at amino acid position 765 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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