ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.2111-3_2115dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003985222 SCV004801581 uncertain significance Weaver syndrome 2019-08-30 criteria provided, single submitter clinical testing The EZH2 c.2111-3_2115dupCAGTTATG p.(Met706GlnfsTer3) variant causes a shift in the protein reading frame that is predicted to result in premature termination of the protein. Loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay is expected. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is not observed in version 2.1.1 or version 4.0.0 of the Genome Aggregation Database. Based on the available evidence the c.2111-3_2115dupCAGTTATG p.(Met706GlnfsTer3) variant is classified as a variant of uncertain significance for Weaver syndrome.

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