ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2660G>A (p.Arg887Gln)

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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 RCV002595260 SCV003493774 uncertain significance Glanzmann thrombasthenia 2022-06-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 887 of the ITGA2B protein (p.Arg887Gln). This variant is present in population databases (rs778956387, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with ITGA2B-related conditions. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002585662 SCV003613229 uncertain significance Inborn genetic diseases 2022-02-24 criteria provided, single submitter clinical testing The c.2660G>A (p.R887Q) alteration is located in exon 26 (coding exon 26) of the ITGA2B gene. This alteration results from a G to A substitution at nucleotide position 2660, causing the arginine (R) at amino acid position 887 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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