ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.4268C>G (p.Ala1423Gly)

dbSNP: rs750589703
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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 RCV005093304 SCV001200021 uncertain significance not provided 2024-06-03 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1423 of the DOCK8 protein (p.Ala1423Gly). This variant is present in population databases (rs750589703, gnomAD 0.002%). 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: 835701). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Baylor Genetics RCV001036646 SCV001524226 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2019-11-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV001036646 SCV003832139 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2022-11-29 criteria provided, single submitter clinical testing

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