ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.5581C>T (p.Arg1861Ter) (rs886041218)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000385095 SCV000329437 pathogenic not provided 2016-09-23 criteria provided, single submitter clinical testing The R1861X pathogenic variant in the NSD1 gene has been reported previously in association with Soto syndrome (Saugier-Veber et al., 2007). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1861X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R1861X as a pathogenic variant.
Invitae RCV000461976 SCV000546545 pathogenic Beckwith-Wiedemann syndrome 2016-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1861 (p.Arg1861*) of the NSD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NSD1 are known to be pathogenic. This particular variant has been reported in the literature in two individuals with Sotos syndrome (PMID: 17565729). For these reasons, this variant has been classified as Pathogenic.
Genetic Services Laboratory, University of Chicago RCV000503418 SCV000596109 pathogenic Sotos syndrome 1 2015-11-06 criteria provided, single submitter clinical testing

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