ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.1579C>A (p.Pro527Thr)

dbSNP: rs2129470135
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001420549 SCV001622854 uncertain significance Weaver syndrome 2020-07-17 criteria provided, single submitter clinical testing The c.1579C>A (p.Pro527Thr) variant in exon 14 of 20 of EZH2 has not been reported in affected individuals in the available literature. This variant is absent in gnomAD suggesting it is not a common benign variant in the populations represented in this database. In silico predictors suggest this variant is Damaging (Provean; score: -7.31; SIFT; score: 0). Given the current evidences regarding its pathogenicity, the c.1579C>A (p.Pro527Thr) variant identified in the EZH2 gene is a Variant of Uncertain Significance.

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