ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3487C>A (p.Gln1163Lys)

gnomAD frequency: 0.00001  dbSNP: rs759405296
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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 RCV001968792 SCV002256957 uncertain significance Vici syndrome 2021-10-14 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with EPG5-related conditions. This variant is present in population databases (rs759405296, ExAC 0.002%). This sequence change replaces glutamine with lysine at codon 1163 of the EPG5 protein (p.Gln1163Lys). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and lysine.

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