ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.5545G>A (p.Glu1849Lys)

gnomAD frequency: 0.00001  dbSNP: rs777698208
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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 RCV000820205 SCV000960906 uncertain significance Vici syndrome 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1849 of the EPG5 protein (p.Glu1849Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs777698208, ExAC 0.03%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably 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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