ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.2407T>C (p.Tyr803His)

gnomAD frequency: 0.00001  dbSNP: rs762353654
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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 RCV000694125 SCV000822555 uncertain significance Vici syndrome 2018-02-16 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 803 of the EPG5 protein (p.Tyr803His). The tyrosine residue is moderately conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is present in population databases (rs762353654, ExAC 0.007%). This variant has not been reported in the literature in individuals with EPG5-related disease. 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: "Deleterious"; 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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