ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.1810C>T (p.Arg604Ter) (rs587784076)

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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 RCV000146770 SCV000194094 pathogenic Sotos syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000431725 SCV000513984 pathogenic not provided 2018-03-12 criteria provided, single submitter clinical testing The R604X nonsense variant in the NSD1 gene has been reported multiple times previously in association with Sotos syndrome (Douglas et al., 2003; Tatton-Brown et al., 2005; Pohjola et al., 2012). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, the R604X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).
Invitae RCV000458210 SCV000546550 pathogenic Beckwith-Wiedemann syndrome 2016-04-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 604 (p.Arg604*) 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 four individuals affected with Sotos syndrome (PMID: 15942875, 19876911). In one of these individuals, this variant occurred de novo (PMID: 12464997). For these reasons, this variant has been classified as Pathogenic.

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