ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.5854C>T (p.Arg1952Trp) (rs886041219)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000345429 SCV000329439 pathogenic not provided 2016-03-15 criteria provided, single submitter clinical testing The R1952W pathogenic variant in the NSD1 gene has been reported previously in association with Sotos syndrome(Tatton-Brown et al., 2005; Saugier-Veber et al., 2007). Functional studies indicate that R1952W impairs the histonelysine methyltransferase activity of the NSD1 enzyme (Qiao et al., 2011). R1952W was not observed inapproximately 6,500 individuals of European and African American ancestry in the NHLBI Exome SequencingProject, indicating it is not a common benign variant in these populations. This substitution occurs at a highlyconserved position that is predicted to be within the SET domain of the NSD1 protein. In silico analysis predicts thisvariant is probably damaging to the protein structure/function.
Center for Human Genetics, Inc RCV000660191 SCV000782187 pathogenic Sotos syndrome 1 2016-11-01 criteria provided, single submitter clinical testing

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