ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.3548_3549insG (p.Ser1183_Glu1184insTer) (rs878855075)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657841 SCV000779597 pathogenic not provided 2018-05-08 criteria provided, single submitter clinical testing The c.3548_3549insG variant in the NSD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3548_3549insG variant is not observed in large population cohorts (Lek et al., 2016). The c.3548_3549insG variant changes codon Glutamic acid 1184 to a premature stop codon, denoted p.Glu1184Ter. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret c.3548_3549insG as a pathogenic variant

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