ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.6311C>G (p.Ala2104Gly)

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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 RCV002979135 SCV003288441 uncertain significance Vici syndrome 2022-01-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 2104 of the EPG5 protein (p.Ala2104Gly). This variant is present in population databases (rs766396310, gnomAD 0.06%). This missense change has been observed in individual(s) with Vici syndrome (PMID: 33365035). 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: "Tolerated"; PolyPhen-2: "Probably 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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