ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.7028C>T (p.Ser2343Leu)

gnomAD frequency: 0.00001  dbSNP: rs1283916552
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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 RCV001046521 SCV001210426 uncertain significance Vici syndrome 2020-03-06 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with leucine at codon 2343 of the EPG5 protein (p.Ser2343Leu). The serine residue is weakly conserved and there is a large physicochemical difference between serine and leucine. This variant has not been reported in the literature in individuals with EPG5-related conditions. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain.

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