ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.4411C>T (p.Arg1471Ter) (rs570278338)

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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 RCV000146833 SCV000194162 pathogenic Sotos syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000226841 SCV000290665 pathogenic Beckwith-Wiedemann syndrome 2016-02-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1471 (p.Arg1471*) of the NSD1 gene. It is expected to result in an absent or disrupted protein product. Truncating variants in NSD1 are known to be pathogenic. This particular truncation has been reported in the literature in an individual affected with Sotos syndrome (PMID: 12464997). For these reasons, this variant has been classified as Pathogenic.

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