ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.5603G>A (p.Gly1868Glu)

gnomAD frequency: 0.00001  dbSNP: rs751998000
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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 RCV002045990 SCV002301314 uncertain significance Vici syndrome 2021-02-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with EPG5-related conditions. This variant is present in population databases (rs751998000, ExAC 0.006%). This sequence change replaces glycine with glutamic acid at codon 1868 of the EPG5 protein (p.Gly1868Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. 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 glutamic 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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