ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.4753G>T (p.Glu1585Ter) (rs587784126)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760933 SCV000890829 pathogenic not provided 2019-01-10 criteria provided, single submitter clinical testing The E1585X nonsense variant in the NSD1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E1585X variant is not observed in large population cohorts (Lek et al., 2016). Although this variant has not been reported previously to our knowledge, E1585X is considered a pathogenic variant.
Genetic Services Laboratory, University of Chicago RCV000146848 SCV000194177 pathogenic Sotos syndrome 1 2013-02-08 criteria provided, single submitter clinical testing

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