ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.158C>T (p.Thr53Met)

dbSNP: rs768812143
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523469 SCV000620180 uncertain significance not provided 2017-08-18 criteria provided, single submitter clinical testing The T53M variant in the EZH2 gene gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The T53M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to)] the protein structure/function. We interpret T53M as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV005091229 SCV005808837 likely benign Weaver syndrome 2024-09-16 criteria provided, single submitter clinical testing

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