ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2206G>T (p.Val736Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002939858 SCV003663171 uncertain significance Inborn genetic diseases 2022-11-21 criteria provided, single submitter clinical testing The c.2206G>T (p.V736L) alteration is located in exon 22 (coding exon 22) of the ITGA2B gene. This alteration results from a G to T substitution at nucleotide position 2206, causing the valine (V) at amino acid position 736 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003500801 SCV004296045 uncertain significance Glanzmann thrombasthenia 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 736 of the ITGA2B protein (p.Val736Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 2328709). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004790434 SCV005412749 uncertain significance not provided 2024-05-13 criteria provided, single submitter clinical testing BP4, PM2_moderate

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