ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3626_3631dup (p.Pro1209_Val1210dup) (rs1554908367)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484649 SCV000570515 likely pathogenic not provided 2016-05-26 criteria provided, single submitter clinical testing The c.3626_3631dupCCGTGC variant in the EHMT1 gene has not been reported previously as a disease-causing pathogenic variant nor as a benign variant, to our knowledge. The c.3626_3631dupCCGTGC variant causes an in-frame duplication of codons Proline 1209 and Valine 1210, denoted p.Pro1209_Val1210dup. The c.3626_3631dupCCGTGC 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. The c.3626_3631dupCCGTGC variant is a strong candidate for a pathogenic variant.

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