ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.4790A>T (p.Glu1597Val)

gnomAD frequency: 0.00003  dbSNP: rs373454848
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000691100 SCV000818843 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2022-03-17 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 1597 of the DOCK8 protein (p.Glu1597Val). This variant is present in population databases (rs373454848, gnomAD 0.007%). 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: 570276). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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