ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.3065C>G (p.Thr1022Ser)

dbSNP: rs777964441
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003763911 SCV001407846 uncertain significance Autosomal recessive hyper-IgE syndrome 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 1022 of the DOCK8 protein (p.Thr1022Ser). This variant is present in population databases (rs777964441, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with DOCK8-related conditions. ClinVar contains an entry for this variant (Variation ID: 961476). 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. 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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