ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.1831C>T (p.Arg611Ter) (rs587784077)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146772 SCV000194096 pathogenic Sotos syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000294223 SCV000329435 pathogenic not provided 2015-09-16 criteria provided, single submitter clinical testing The R611X nonsense mutation in the NSD1 gene has been reported previously in association with Sotos syndrome (Tatton-Brown et al., 2005). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Johns Hopkins Genomics,Johns Hopkins University RCV000146772 SCV000886722 pathogenic Sotos syndrome 1 2019-01-17 criteria provided, single submitter clinical testing This NSD1 variant has been previous been reported in individuals with a clinical presentation consistent with Sotos syndrome. Two submitters in ClinVar classify this variant as pathogenic. Additionally this variant is absent from large population datasets. This nonsense variant in exon 5 of 23 likely results in nonsense-mediated decay and lack of protein production. This variant is considered pathogenic.

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