ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.2250C>G (p.Ile750Met)

dbSNP: rs779629814
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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 RCV001903705 SCV002170851 uncertain significance Weaver syndrome 2021-07-25 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. 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 affected with EZH2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces isoleucine with methionine at codon 750 of the EZH2 protein (p.Ile750Met). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and methionine.

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