ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.5900C>T (p.Pro1967Leu)

gnomAD frequency: 0.00001  dbSNP: rs565777410
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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 RCV001061837 SCV001226596 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1967 of the DOCK8 protein (p.Pro1967Leu). This variant is present in population databases (rs565777410, gnomAD 0.006%). 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: 856386). 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: "Possibly Damaging"; 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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