ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.2069G>A (p.Arg690Lys)

dbSNP: rs1568173320
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690236 SCV000817915 uncertain significance Vici syndrome 2018-04-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with EPG5-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with lysine at codon 690 of the EPG5 protein (p.Arg690Lys). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and lysine. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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