ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.626-3T>C

dbSNP: rs775960927
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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 RCV001309346 SCV001498842 uncertain significance Weaver syndrome 2022-12-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1011534). 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with EZH2-related conditions. This variant is present in population databases (rs775960927, gnomAD 0.0009%). This sequence change falls in intron 6 of the EZH2 gene. It does not directly change the encoded amino acid sequence of the EZH2 protein. It affects a nucleotide within the consensus splice site.
Breakthrough Genomics, Breakthrough Genomics RCV004692465 SCV005195721 uncertain significance not provided criteria provided, single submitter not provided

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