ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.7736G>A (p.Arg2579Gln)

dbSNP: rs763628666
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001550170 SCV001770458 uncertain significance not provided 2021-05-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31625567)
Labcorp Genetics (formerly Invitae), Labcorp RCV002032579 SCV002155925 uncertain significance Vici syndrome 2024-01-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2579 of the EPG5 protein (p.Arg2579Gln). This variant is present in population databases (rs763628666, gnomAD 0.02%). This missense change has been observed in individual(s) with Vici syndrome (PMID: 31625567). ClinVar contains an entry for this variant (Variation ID: 1189712). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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