ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3289C>G (p.Gln1097Glu)

dbSNP: rs2145716910
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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 RCV001983681 SCV002281102 uncertain significance Vici syndrome 2020-12-02 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with EPG5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with glutamic acid at codon 1097 of the EPG5 protein (p.Gln1097Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid.

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