ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2712+1G>C (rs1057518849)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480859 SCV000570683 likely pathogenic not provided 2016-06-14 criteria provided, single submitter clinical testing The c.2712+1G>C likely pathogenic variant in the EHMT1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 18 and results in the deletion of the the ANK 5 repeat domain. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.2712+1G>C variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.

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