ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.611A>G (p.Lys204Arg)

gnomAD frequency: 0.00001  dbSNP: rs749123170
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822262 SCV000963055 uncertain significance Vici syndrome 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 204 of the EPG5 protein (p.Lys204Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs749123170, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with EPG5-related conditions. 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 arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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