ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.1181G>C (p.Gly394Ala)

dbSNP: rs587778305
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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 RCV003611496 SCV004433571 uncertain significance Weaver syndrome 2023-05-27 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 134227). This variant has not been reported in the literature in individuals affected with EZH2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 394 of the EZH2 protein (p.Gly394Ala).
ITMI RCV000120900 SCV000085068 not provided not specified 2013-09-19 no assertion provided reference population

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