ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.289C>G (p.Pro97Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003762329 SCV004392783 uncertain significance Autosomal recessive hyper-IgE syndrome 2023-01-21 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 97 of the DOCK8 protein (p.Pro97Ala). 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 DOCK8 protein function. This variant has not been reported in the literature in individuals affected with DOCK8-related conditions. This variant is not present in population databases (gnomAD no frequency).

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