ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.7526C>T (p.Ser2509Phe)

gnomAD frequency: 0.00001  dbSNP: rs1447140985
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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 RCV000802094 SCV000941909 uncertain significance Vici syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 2509 of the EPG5 protein (p.Ser2509Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). 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: "Deleterious"; PolyPhen-2: "Possibly 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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