ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.13C>A (p.Arg5Ser)

dbSNP: rs61737078
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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 RCV001997113 SCV002229580 uncertain significance Leukocyte adhesion deficiency 1 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 5 of the ITGB2 protein (p.Arg5Ser). This variant is present in population databases (rs61737078, gnomAD 0.008%). 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: 1448388). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004043866 SCV004888489 uncertain significance Inborn genetic diseases 2022-03-16 criteria provided, single submitter clinical testing The c.13C>A (p.R5S) alteration is located in exon 2 (coding exon 1) of the ITGB2 gene. This alteration results from a C to A substitution at nucleotide position 13, causing the arginine (R) at amino acid position 5 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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