ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.6349C>T (p.Arg2117Ter) (rs587784190)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000146920 SCV000194249 pathogenic Sotos syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000342078 SCV000329442 pathogenic not provided 2017-02-21 criteria provided, single submitter clinical testing The R2117X nonsense mutation in the NSD1 gene has been reported previously in association with Sotos syndrome (Tong et al., 2005). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Invitae RCV000468338 SCV000546557 pathogenic Beckwith-Wiedemann syndrome 2016-08-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 2117 (p.Arg2117*) 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 (PMID: 12807965, 15942875, 17565729). This particular variant has been reported in the literature as a de novo finding in an individual with Sotos syndrome (PMID: 16232326). ClinVar contains an entry for this variant (Variation ID: 159412). For these reasons, this variant has been classified as Pathogenic.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000146920 SCV001190242 pathogenic Sotos syndrome 1 2019-05-15 no assertion criteria provided clinical testing

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