ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.118A>G (p.Ser40Gly)

gnomAD frequency: 0.00002  dbSNP: rs754403133
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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 RCV000818401 SCV000959012 uncertain significance Weaver syndrome 2022-09-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 661065). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 40 of the EZH2 protein (p.Ser40Gly). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with EZH2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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