ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.2234A>G (p.Glu745Gly)

dbSNP: rs1584844048
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000788111 SCV001233688 uncertain significance Weaver syndrome 2019-01-04 criteria provided, single submitter clinical testing 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 disrupts the p.Glu745 amino acid residue in EZH2. Other variant(s) (p.Glu745Lys) that disrupt this residue have been observed in individuals with EZH2-related conditions (PMID: 23239504, 22190405), which suggests that this may be a clinically significant amino acid residue. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with EZH2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with glycine at codon 745 of the EZH2 protein (p.Glu745Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine.
Institute of Human Genetics, Cologne University RCV000788111 SCV000926267 pathogenic Weaver syndrome no assertion criteria provided clinical testing

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