ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.1364A>G (p.Asn455Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002605273 SCV002965856 uncertain significance Weaver syndrome 2023-04-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 455 of the EZH2 protein (p.Asn455Ser). This variant has not been reported in the literature in individuals affected with EZH2-related conditions. 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. 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 expected to disrupt EZH2 protein function. ClinVar contains an entry for this variant (Variation ID: 1926619).
Ambry Genetics RCV004065872 SCV004864869 uncertain significance Inborn genetic diseases 2024-03-04 criteria provided, single submitter clinical testing The c.1364A>G (p.N455S) alteration is located in exon 11 (coding exon 10) of the EZH2 gene. This alteration results from a A to G substitution at nucleotide position 1364, causing the asparagine (N) at amino acid position 455 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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