ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3689C>A (p.Thr1230Asn)

dbSNP: rs772294581
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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 RCV001202747 SCV001373873 uncertain significance Vici syndrome 2019-08-22 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with EPG5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with asparagine at codon 1230 of the EPG5 protein (p.Thr1230Asn). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and asparagine.

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