ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.248G>A (p.Gly83Asp)

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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 RCV002581708 SCV003487826 uncertain significance Glanzmann thrombasthenia 2022-09-23 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ITGA2B protein function. This variant has not been reported in the literature in individuals affected with ITGA2B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 83 of the ITGA2B protein (p.Gly83Asp).
Ambry Genetics RCV002574500 SCV003673188 uncertain significance Inborn genetic diseases 2022-12-13 criteria provided, single submitter clinical testing The c.248G>A (p.G83D) alteration is located in exon 2 (coding exon 2) of the ITGA2B gene. This alteration results from a G to A substitution at nucleotide position 248, causing the glycine (G) at amino acid position 83 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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