ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.240G>A (p.Met80Ile)

dbSNP: rs1410991160
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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 RCV002039173 SCV002311854 uncertain significance Vici syndrome 2022-08-15 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1523829). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with EPG5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 80 of the EPG5 protein (p.Met80Ile).

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