ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.3091C>T (p.Arg1031Ter) (rs587784096)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443994 SCV000516729 pathogenic not provided 2015-04-11 criteria provided, single submitter clinical testing The R1031X nonsense variant in the NSD1 gene has been reported previously as de novo in aproband diagnosed with Sotos syndrome (Turkmen et al., 2003). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1031X variant was not observed 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. Therefore, we interpret R1031X as a pathogenic variant.
Genetic Services Laboratory, University of Chicago RCV000146802 SCV000194128 pathogenic Sotos syndrome 1 2013-02-08 criteria provided, single submitter clinical testing

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