ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.280G>C (p.Val94Leu)

dbSNP: rs1554655875
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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 RCV003596100 SCV000766897 uncertain significance Autosomal recessive hyper-IgE syndrome 2017-09-17 criteria provided, single submitter clinical testing 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. 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 leucine 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. This variant has not been reported in the literature in individuals with DOCK8-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with leucine at codon 94 of the DOCK8 protein (p.Val94Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine.

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