ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.844A>G (p.Met282Val)

gnomAD frequency: 0.00001  dbSNP: rs1358436668
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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 RCV001326425 SCV001517456 uncertain significance Vici syndrome 2020-02-21 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 282 of the EPG5 protein (p.Met282Val). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency). 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 valine 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. This variant has not been reported in the literature in individuals with EPG5-related conditions.

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