ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.3958C>T (p.Arg1320Ter) (rs121908070)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487238 SCV000568741 pathogenic not provided 2017-02-16 criteria provided, single submitter clinical testing The R1320X nonsense variant in the NSD1 gene has been reported previously in association with Sotos syndrome (Nagai et al., 2003; Tatton-Brown et al., 2005). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, the R1320X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, the presence of R1320X is consistent with the diagnosis of Sotos syndrome in this individual.
Genetic Services Laboratory, University of Chicago RCV000004359 SCV000194148 pathogenic Sotos syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
OMIM RCV000004359 SCV000024530 pathogenic Sotos syndrome 1 2003-04-01 no assertion criteria provided literature only

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