ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln) (rs587784177)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000146906 SCV000782188 pathogenic Sotos syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415049 SCV000493005 likely pathogenic Hypertelorism; Global developmental delay; Scoliosis; Hypoplasia of the corpus callosum; Delayed speech and language development; Delayed gross motor development; High anterior hairline 2014-05-14 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414978 SCV000493045 likely pathogenic Preeclampsia; Tall stature; Overgrowth; Pointed chin; Delayed speech and language development; Macrocephalus; High forehead; Osteopenia; Increased body weight 2013-12-13 criteria provided, single submitter clinical testing
GeneDx RCV000290468 SCV000329438 pathogenic not provided 2016-03-04 criteria provided, single submitter clinical testing The R2017Q missense mutation in the NSD1 gene has been reported previously in association with Sotos syndrome (Douglas et al., 2003; Tatton-Brown et al., 2005). The mutation alters an amino acid residue in the highly conserved SET domain of the protein.
Genetic Services Laboratory, University of Chicago RCV000146906 SCV000194235 pathogenic Sotos syndrome 1 2013-02-08 criteria provided, single submitter clinical testing

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