ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.6070C>T (p.Gln2024Ter) (rs587784179)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146908 SCV000194237 pathogenic Sotos syndrome 1 2013-08-21 criteria provided, single submitter clinical testing
GeneDx RCV000578910 SCV000680980 pathogenic not provided 2017-06-15 criteria provided, single submitter clinical testing The Q2024X variant in the NSD1 gene has been reported as pathogenic in ClinVar, but additional evidence is not available (Landrum et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q2024X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The presence of this pathogenic variant is consistent with a diagnosis of Sotos syndrome

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