ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.959C>T (p.Thr320Met)

dbSNP: rs766320232
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003763858 SCV001383534 uncertain significance Autosomal recessive hyper-IgE syndrome 2023-06-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 942058). 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 present in population databases (rs766320232, gnomAD 0.003%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 320 of the DOCK8 protein (p.Thr320Met).
Molecular Oncology - Human Genetics Lab, University of Sao Paulo RCV001843572 SCV002103141 uncertain significance Hepatoblastoma no assertion criteria provided research

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