ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.2952_2953CT[1] (p.Ser985fs) (rs587784092)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000330545 SCV000329436 pathogenic not provided 2016-06-14 criteria provided, single submitter clinical testing The c.2954_2955delCT pathogenic variant in the NSD1 gene has been reported previously in one individual with Sotos syndrome (Waggoner et al., 2005). This variant causes a frameshift starting with codon Serine 985, changes this amino acid to a Cysteine residue, and creates a premature Stop codon at position 25 of the new reading frame, denoted p.Ser985CysfsX25. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2954_2955delCT variant was not observed in approximately 6500 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 c.2954_2955delCT as a pathogenic variant.
Genetic Services Laboratory, University of Chicago RCV000146796 SCV000194122 pathogenic Sotos syndrome 1 2013-02-08 criteria provided, single submitter clinical testing

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