ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.2029+3_2029+25del

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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 RCV003874758 SCV004682946 uncertain significance Weaver syndrome 2024-05-15 criteria provided, single submitter clinical testing This sequence change falls in intron 17 of the EZH2 gene. It does not directly change the encoded amino acid sequence of the EZH2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs746222595, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with EZH2-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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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