ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.-1_2del (p.Met1del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002868174 SCV003628051 uncertain significance Inborn genetic diseases 2022-06-28 criteria provided, single submitter clinical testing Loss of function has not been established as a mechanism of disease; May escape nonsense-mediated mRNA decay and/or be rescued by re-initiation Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003502687 SCV004275470 uncertain significance Weaver syndrome 2023-12-09 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the EZH2 mRNA. The next in-frame methionine is located at codon 24. This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with EZH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2294507). 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.

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