ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.1528C>A (p.Leu510Met) (rs771479299)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000418267 SCV000511305 uncertain significance not provided 2016-11-02 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV000699772 SCV000828497 uncertain significance Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 2018-02-18 criteria provided, single submitter clinical testing This sequence change replaces leucine with methionine at codon 510 of the DOCK8 protein (p.Leu510Met). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and methionine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with DOCK8-related disease. ClinVar contains an entry for this variant (Variation ID: 377120). Algorithms developed to predict the effect of missense changes on protein structure and function 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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