ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter) (rs879255531)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000239430 SCV000297798 pathogenic Kleefstra syndrome 1 2016-07-14 criteria provided, single submitter research
GeneDx RCV000478780 SCV000567253 pathogenic not provided 2018-07-31 criteria provided, single submitter clinical testing The R225X variant in the EHMT1 gene has not been reported previously as a pathogenic variant noras a benign polymorphism, to our knowledge. This variant is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. R225X was notobserved in approximately 6,500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations. We interpret R225X asa pathogenic variant.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000239430 SCV000966165 likely pathogenic Kleefstra syndrome 1 2018-10-19 criteria provided, single submitter clinical testing

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