ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.1567G>A (p.Asp523Asn)

gnomAD frequency: 0.00006  dbSNP: rs199976562
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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 RCV001210636 SCV001382132 uncertain significance Leukocyte adhesion deficiency 1 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 523 of the ITGB2 protein (p.Asp523Asn). This variant is present in population databases (rs199976562, gnomAD 0.05%). 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: 940949). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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 RCV003363165 SCV004057259 uncertain significance Inborn genetic diseases 2023-07-11 criteria provided, single submitter clinical testing The c.1567G>A (p.D523N) alteration is located in exon 12 (coding exon 11) of the ITGB2 gene. This alteration results from a G to A substitution at nucleotide position 1567, causing the aspartic acid (D) at amino acid position 523 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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