ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.733G>T (p.Gly245Ter)

dbSNP: rs1554852648
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578951 SCV000681112 pathogenic not provided 2017-11-10 criteria provided, single submitter clinical testing The G245X nonsense variant in the EHMT1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The G245X variant is not observed in large population cohorts (Lek et al., 2016).

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