Total submissions: 2
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, |
RCV001268039 | SCV001446636 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing |