ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.1286T>A (p.Ile429Asn)

dbSNP: rs770327434
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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 RCV002018158 SCV002305214 uncertain significance Weaver syndrome 2021-08-12 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt EZH2 protein function. 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. This variant has not been reported in the literature in individuals affected with EZH2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with asparagine at codon 429 of the EZH2 protein (p.Ile429Asn). The isoleucine residue is moderately conserved and there is a large physicochemical difference between isoleucine and asparagine.

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