ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.5431_5433delinsCAA (p.Glu1811Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003388680 SCV004100389 uncertain significance Combined immunodeficiency due to DOCK8 deficiency criteria provided, single submitter clinical testing The missense variant p.Glu1811Gln in DOCK8 (NM_203447.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Glu1811Gln variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. There is a small physicochemical difference between glutamic acid and glutamine, which is not likely to impact secondary protein structure as these residues share similar properties. For these reasons, this variant has been classified as Uncertain Significance.

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