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: 2
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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 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). This variant is present in population databases (rs764959017, gnomAD 0.008%), including at least one homozygous and/or hemizygous individual. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
GenomeConnect - Invitae Patient Insights Network RCV002048153 SCV006556983 not provided Vici syndrome no classification provided phenotyping only Variant classified as Uncertain significance and reported on 04-15-2021 by Invitae. GenomeConnect-InvitaePIN assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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