ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.971C>A (p.Ala324Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811540 SCV000951809 uncertain significance Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 2018-11-21 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 324 of the DOCK8 protein (p.Ala324Asp). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DOCK8-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The aspartic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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