ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.2956C>G (p.Pro986Ala)

gnomAD frequency: 0.00001  dbSNP: rs755139046
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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 RCV000549652 SCV000641816 uncertain significance Vici syndrome 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 986 of the EPG5 protein (p.Pro986Ala). The proline residue is weakly conserved and there is a small physicochemical difference between proline and alanine. This variant is present in population databases (rs755139046, ExAC 0.003%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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