ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.398A>G (p.Tyr133Cys)

dbSNP: rs1808822115
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001201666 SCV001372748 pathogenic Weaver syndrome 2019-07-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been reported to affect EZH2 protein function (PMID: 26694085). This variant has been observed to be de novo in individuals affected with Weaver syndrome (PMID: 26694085). This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with cysteine at codon 133 of the EZH2 protein (p.Tyr133Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268039 SCV001446636 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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