ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.2350C>G (p.Gln784Glu)

gnomAD frequency: 0.00004  dbSNP: rs764959017
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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 RCV002048153 SCV002288999 uncertain significance Vici syndrome 2022-02-04 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with EPG5-related conditions. This variant is present in population databases (rs764959017, gnomAD 0.008%), including at least one homozygous and/or hemizygous individual. This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 784 of the EPG5 protein (p.Gln784Glu).

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