ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3462-10C>G

dbSNP: rs752178081
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418352 SCV000533486 likely pathogenic not provided 2016-11-11 criteria provided, single submitter clinical testing The c.3462-10C>G variant in the EHMT1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant reduces the quality of the splice acceptor site in intron 24, and is expected to cause abnormal gene splicing. The c.3462-10C>G variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.3462-10C>G as a likely pathogenic variant.

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