ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.1588G>A (p.Val530Met)

gnomAD frequency: 0.00013  dbSNP: rs373187839
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000818813 SCV000959446 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 530 of the DOCK8 protein (p.Val530Met). This variant is present in population databases (rs373187839, gnomAD 0.008%). 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: 661405). 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.
Revvity Omics, Revvity RCV000818813 SCV003830564 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2022-03-03 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251742 SCV001427483 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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