ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.118A>G (p.Thr40Ala)

gnomAD frequency: 0.00019  dbSNP: rs77120952
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752051 SCV001986774 uncertain significance not provided 2024-03-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002539921 SCV003645889 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.118A>G (p.T40A) alteration is located in exon 1 (coding exon 1) of the ITGA2B gene. This alteration results from a A to G substitution at nucleotide position 118, causing the threonine (T) at amino acid position 40 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003605766 SCV004463523 uncertain significance Glanzmann thrombasthenia 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 40 of the ITGA2B protein (p.Thr40Ala). This variant is present in population databases (rs77120952, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with ITGA2B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1304284). 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 with a negative predictive value of 80%. 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.

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