ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.730G>A (p.Ala244Thr)

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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 RCV002780309 SCV003023251 uncertain significance Leukocyte adhesion deficiency 1 2022-02-18 criteria provided, single submitter clinical testing 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 disruptive. 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. This variant has not been reported in the literature in individuals affected with ITGB2-related conditions. This variant is present in population databases (rs141195302, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 244 of the ITGB2 protein (p.Ala244Thr).
Ambry Genetics RCV002761529 SCV003526622 uncertain significance Inborn genetic diseases 2022-07-22 criteria provided, single submitter clinical testing The c.730G>A (p.A244T) alteration is located in exon 6 (coding exon 5) of the ITGB2 gene. This alteration results from a G to A substitution at nucleotide position 730, causing the alanine (A) at amino acid position 244 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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