ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.277G>A (p.Val93Met)

gnomAD frequency: 0.00002  dbSNP: rs375686155
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003763792 SCV001231561 uncertain significance Autosomal recessive hyper-IgE syndrome 2023-02-02 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 DOCK8 protein function. ClinVar contains an entry for this variant (Variation ID: 860270). This variant has not been reported in the literature in individuals affected with DOCK8-related conditions. This variant is present in population databases (rs375686155, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 93 of the DOCK8 protein (p.Val93Met).

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